Wednesday, April 6 - ICHG2016 [The 13th International Congress of

Transcription

Wednesday, April 6
8:00-10:00 Main Hall
Vanderbilt University Medical Center, USA
Poh-San Lai
National University of Singapore, Singapore
Wed(4)-PL2-1
Retinal cell therapy using iPS cells
Masayo Takahasi
Center for Developmental Biology, Riken, Japan
The first in man application of iPS-derived cells started in September 2014 targeted age-related macular degeneration
(AMD). AMD is caused by the senescence of retinal pigment epithelium (RPE), so that we aim to develop a treatment
that replace damaged RPE with normal, young RPE made from iPS cells.
In the first clinical study, we generated iPS cells from patient’s skin fibroblast using the episomal plasmid vector. RPE
cells were differentiated from iPS cells using SFEBq. Picking up the brown cluster of cells, hiPS-RPE cells were
purified. Cells were evaluated their purity, function, and various genetic examination. Grafted cell sheet went through
various tests and tumorigenicity test using immunodeficient mice to check the safety. We judge the outcome 1 year after
the surgery. Primary endpoint is the safety and mainly the tumor formation and immune rejection will be checked.
We evaluated plasmid remnant & gene alteration using WGS, epigenetic characteristics and purity using single cell RTPCR other than our original quality control (QC). From these experiences, we think we should distinguish between basic
research and regulatory science in order to promote regenerative medicine promptly.
Since autologous transplantation is time consuming and the cost is high, it is necessary to prepare allogeneic
transplantation to establish a standard treatment. RPE cells are suitable for allogeneic transplantation because they
suppress the activation of the T-cell and it is possible that the rejection is considerably suppressed by using the iPS cell
with matched three loci of HLA.
In Japan pharmaceutical law has been changed and a new chapter for regenerative medicine was generated. This is the
first law specific for regenerative medicine in the world. It was determined in the co-operation with ministry & academia
and its success will depend on the co-operation of them. I will discuss about the future of retinal regenerative medicine.
The retina has been called the “approachable part of the brain,” owing to its relatively simple structure and its
location near the body surface, and for these reasons it serves as a useful and experimentally amenable model
of the central nervous system. Recently, it has been shown that new retinal neurons can be generated after
being damaged. This has opened up new hope that the ability to regenerate neurons and even to reconstitute
the neural network may be retained in the adult retina. We are now exploring the exciting prospect that, by
transplanting cells from outside of the retina or by regeneration from intrinsic progenitor cells, it may one day
be possible to restore lost function to damaged retinas. Our goal is to study retinal regeneration based on both
a strong foundation in basic research and solid clinical evidence.
Masayo Takahashi
Center for Developmental Biology, Riken, Japan
Project leader, Laboratory for Retinal Regeneration Research at RIKEN.
Masayo Takahashi received her M.D. in 1986, and her Ph.D. in 1992 from Kyoto University. After an assistant
professorship in the Department of Ophthalmology, Kyoto University Hospital, she moved to the Salk Institute
in 1995, where she discovered the potential of stem cells as a tool for retinal therapy. She returned to Kyoto
University Hospital in 1997, and was appointed associate professor at the Translational Research Center in
the same hospital in 2001. She joined the CDB as a team leader of the Lab for Retinal Regeneration in 2006.
In 2013, her team launched a pilot clinical study of autologous iPS cell-derived RPE cell sheets for exudative
aged-related macular degeneration (AMD), and performed the first RPE cell sheet graft transplantation in Sept.
2014. Her clinical specialty is retinal disease-specifically, macular diseases and retinal hereditary diseases. Her
aim is to understand these diseases at a fundamental level and develop retinal regeneration therapies.
209
Workshops
Chairs: Nancy J. Cox
Special Focus Sessions Concurrent Invited Sessions
Plenary Lecture
Plenary Lecture 2
Poster Session
PL2
April 6 (Wed.)
Program
ICHG2016
Wed(4)-PL2-2
Experience from 10.000 diagnostic exomes
Han G. Brunner
Radboud UMC, Department of Human Genetics 855, Nijmegen; Maastricht University Medical Center, Department of
Clinical Genetics, Maastricht, The Netherlands
We are using exome sequencing in clinical diagnosis for a broad range of diseases. For the year 2016, we expect
to run 8000 diagnostic exome tests. We have reviewed our experience of the first 10.000 exome tests, and find
that this has now become an integrated part of modern medical care for patients with rare diseases.
After 5 years of experience with exomes in a clinical setting, the following conclusions are drawn:
• Exomes do better than doctors most of the time
• Exomes do not generate large numbers of incidental findings
• Incidental findings can be managed by a combination of careful informed consent, targeted analysis where
possible, and informed genetic counseling
• Genomes do better than exomes, but not much at this point
• We do not understand enough of non-coding DNA to allow easy detection of variants that impact disease
• We find similar mutations for seemingly disctinct neurodevelopmental disorders suggesting broad clinical
heterogeneity, and fueling nosological debate
• De novo mutations are an important cause of severe genetic disease in non-consaguineous populations
Han Brunner pursues the scientific understanding of the connections between clinical and molecular features
of rare diseases, including applications to patient care. He has pioneered the discovery of a large number
of disease genes, and the application of cutting-edge genomic technologies (genomic microarrays, exome
sequencing, and whole genome sequencing) to discover the causes of genetic diseases. Much of this work
focuses on neurodevelopmental conditions such as intellectual disability and abnormal behavior. A pertinent
finding is that in non-consaguineous populations, the major cause for severe intellectual disability lies in
spontaneous mutations.
Han G. Brunner
Radboud UMC, Department of Human Genetics 855, Nijmegen; Maastricht University Medical Center,
Department of Clinical Genetics, Maastricht, The Netherlands
Han Brunner trained as a clinical geneticist at Nijmegen University. In 1998 he was appointed full professor and
head of the department of Human Genetics at Nijmegen University Hospital. In 2014 he was also appointed
chairman of the Department of Clinical Genetics at Maastricht University Medical Center in the Netherlands.
He was elected member of the board of directors of the Dutch, European (president in 2014-2015) and of the
American Societies of Human Genetics. Han Brunner was elected member of the Royal Netherlands Academy
of Arts and Sciences in 2013, and of the Academia Europea in 2012. He is a Knight in the Order of the Dutch
Lion since 2013. He is a co-winner of the King Faisal International Prize in Medicine 2016, with Joris Veltman.
210
April 6 (Wed.)
Program
Wed(4)-PL2-3
Genomics View of Neurological Diseases
Shoji Tsuji
Shoji Tsuji
Dr. Tsuji is Professor of Neurology and Director of Medical Genome Center at the University of Tokyo Hospital.
He has worked on the molecular analysis and development of treatment for neurological diseases. He has
identified causative genes for neurological diseases including dentatorubral-pallidoluysian atrophy (DRPLA).
The University of Tokyo Hospital recently established Medical Genome Center with installation of next
generation sequencers. He is applying these new technologies to elucidate molecular bases of hereditary and
sporadic neurological diseases. His team has recently discovered that COQ2 gene is associated with familial as
well as sporadic multiple system atrophy (MSA).
Workshops
The availability of massively parallel genome sequencing technologies has been revolutionizing our
understanding of neurological diseases. These technologies have dramatically accelerated discovery of new genes
for a number of hereditary neurological diseases, and, furthermore, opening a new avenue to better understand
molecular bases of sporadic neurological disease. In general, hereditary neurological diseases comprise only
5-10%. It is of note that the majority of patients with neurological diseases has sporadic neurological diseases,
despite that both forms share quite similar clinical and pathological presentations. Previous studies have
shown involvement of genetic factors with large effect sizes in sporadic neurological diseases. Genome-wide
association studies based on the common disease-common variants hypothesis, however, revealed only genes
with small effect sizes. Given these experiences, a new research paradigm of common disease-multiple rare
variants hypothesis, is emerging, which requires a large-scale comprehensive genome sequencing to identify
disease-relevant rare variants. Based on this research paradigm, we have identified GBA and COQ2 as strong
genetic risk factors for Parkinson disease (PD) and multiple system atrophy (MSA), respectively. Association
of the GBA variants with PD has been observed irrespective of ethnic backgrounds, while association of
COQ2 variants has been demonstrated mainly in MSA patients in East Asia including Japanese and Chinese
populations. COQ2 codes for an enzyme essential for coenzyme Q10 (CoQ10) biosynthesis, raising a possibility
that supplementation of CoQ10 may be efficacious for treatment of MSA. Currently a phase I clinical trial of
CoQ10 is being conducted. Thus, high-throughput genome sequencing technologies will enable us to explore
molecular bases of neurological diseases with an unprecedentedly robust power and we expect a new era of datacentric clinical practice.
Plenary Lecture
Department of Neurology and Medical Genome Center, The University of Tokyo Hospital;
Medical Genomics Research Initiative, The University of Tokyo, Japan
1984
1991
2001
2002
2011
2015
Visiting Fellow, National Institutes of Health, USA
Professor and Chair, Department of Neurology, Niigata University
Director, Brain Research Institute, Niigata University
Professor and Chair, Department of Neurology, The University of Tokyo
Director, Medical Genome Center, The University of Tokyo Hospital
Director, Medical Genomics Research Initiative, The University of Tokyo
Honors and Awards:
2011
Medal of Honor with Purple Ribbon (the Government of Japan)
2015
Medal for Scientific Achievement of Neurology (World Federation of Neurology)
211
Poster Session
Department of Neurology and Medical Genome Center, The University of Tokyo Hospital;
Medical Genomics Research Initiative, The University of Tokyo, Japan
ICHG2016
10:15-12:15 Annex 1
CIS21 Concurrent Invited Session 21
"NGS Dissecting Human Genetic Diseases"
Conveners:Naomichi Matsumoto
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
Xue Zhang
McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences & Peking Union
Medical College, China
Next generation sequencers (NGSs) make a huge impact on human genetics researches. After the initial success of
identifying culprit mutations for Miller syndrome and Charcot-Marie-Tooth disease in 2010, whole exome sequencing
(WES) and whole genome sequencing (WGS) have become standard tools for investigation of genetic diseases in which
mutant genes are known or unknown. Now even clinical WES and WGS are available with affordable prices. In this
concurrent session, four speakers are invited from Asia, Middle East, North America and Europe to introduce you current
status of gene identification projects for human genetic diseases in the world.
Wed(4)-CIS21-1
Next Generation Sequencing dissecting human “genetic” diseases
Naomichi Matsumoto
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan
Wed(4)-CIS21-2
Exome analysis of autosomal recessive disorders
Fowzan S. Alkuraya
Genetics, King Faisal Specialist Hospital and Research Center, Saudi Arabia
Wed(4)-CIS21-3
PhenoDB and GeneMatcher, solving unsolved whole exome data
Nara Lygia M. Sobreira
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, USA
Wed(4)-CIS21-4
Understanding the causes of inherited rare diseases
William Newman
Manchester Centre for Genomic Medicine, University of Manchester, UK
212
10:15-12:15 Annex 2
"Epigenetic Inheritance and Reprogramming in Biology and Disease"
April 6 (Wed.)
Program
In this session, we discuss our latest knowledge regarding the regulation of the transcriptome and epigenome of human
tissues and cells, with a special reference to epigenetic reprogramming, trans-generational inheritance, and epigeneticsrelated congenital disease. Fuchou Tang talks about the transcriptome and DNA methylome landscape of human germ
cells and pre-implantation embryos, providing insights into the critical features of the methylome of these tissues, as
well as its functional relationship with the regulation of gene expression and the repression of transposable elements.
Hiroyuki Sasaki presents data showing that human placenta retains some of the asymmetry of the methylome between
the male and female gametes, which results in placenta-specific imprinted genes unique to humans. Masayo Kagami’s
work focuses on imprinting-related disorders, especially those involving the imprinted genes on human chromosome 14,
revealing the mechanisms regulating the gene cluster and the genotype-phenotype relationship. Lastly, Anne FergusonSmith talks about the effects of in utero undernourishment on the adult sperm methylome, which can be associated with
metabolic disease in offspring. We discuss the roles of epigenetic inheritance and reprogramming in human biology and
disease.
Wed(4)-CIS22-1
Epigenetic regulation of gene expression network in human germline cells
Fuchou Tang
BIOPIC, College of Life Sciences, Peking University, China
Wed(4)-CIS22-2
Incomplete reprogramming of germline DNA methylation in the human
placenta
Hiroyuki Sasaki
Medical Institute of Bioregulation, Kyushu University, Japan
Wed(4)-CIS22-3
Anne Ferguson-Smith
Department of Genetics, University of Cambridge, UK
Workshops
Medical Institute of Bioregulation, Kyushu University, Japan
Kagami-Ogata syndrome: Clinically recognizable imprinting disorder caused
by upd(14)pat and related condition
Masayo Kagami
Department of Molecular Endocrinology, National Research Institute for Child Health and Development,
Japan
Wed(4)-CIS22-4
Establishment and maintenance of stable and variable epigenetic states in
mammals
Anne Ferguson-Smith
Department of Genetics, University of Cambridge, UK
213
Poster Session
Plenary Lecture
Conveners:Hiroyuki Sasaki
ICHG2016
10:15-12:15 Room A
"Pharmacogenomics"
Conveners:Taisei Mushiroda
Research Group for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Japan
Munir Pirmohamed
Department of Molecular and Clinical Pharmacology, University of Liverpool, UK
Responses to drugs vary widely. Lack of efficacy of a drug can lead to inadequate control of disease and is a waste of
resources. Conversely, adverse drug reactions (ADRs) are frequent and often unpredictable. Many genetic polymorphisms
have been identified in genes that affect efficacy or risk of ADRs for various drugs. In USA, information on about 125
germline genomic biomarkers is available in US FDA-approved drug labels. In particular, US FDA strongly recommends
genotyping for polymorphisms in drug-metabolizing enzymes and HLA alleles prior to drug administration for several
drugs, such as eliglustat, nilotinib, pimozide, tetrabenazine, carbamazepine and lapatinib. One of the issues facing all of
us is implementation of an evidenced–based clinical practice using the genomic biomarkers. In order to establish PGxbased individualization of drug therapy, the advantages of genomic biomarkers need to be demonstrated with respect to
clinical validity, clinical utility and pharmacoeconomics. In this session, lectures will be delivered by researchers in Asia,
Europe and Africa working on genomic biomarkers, from discovery to application to improve drug therapy.
Wed(4)-CIS23-1
Prediction of severe adverse drug reactions using pharmacogenomic
biomarkers: Current status and future prospects in Japan
Yoshiro Saito
Medicinal Safety Science, National Institute of Health Sciences, Japan
Wed(4)-CIS23-2
Genomic Diversity of African populations and pharmacogenomics in the
safe and efficacious use of efavirenz in the treatment of HIV/AIDS
Collen Masimirembwa
African Institute of Biomedical Science and Technology, Zimbabwe
Wed(4)-CIS23-3
Move Pharmacogenomics Discovery to Medical Practice
Yuan-Tsong Chen
Institute of Biomedical Sciences, Academia Sinica, Taipei, Taiwan; Department of Pediatrics, Duke
University, Durham, NC, USA
Wed(4)-CIS23-4
Pharmacogenomics: The long journey from discovery to implementation
Munir Pirmohamed
Department of Molecular and Clinical Pharmacology, University of Liverpool, UK
214
10:15-12:15 Room E
"The new world of RNA biology: Emerging roles of IncRNAs and RNA
April 6 (Wed.)
Program
Marcel Dinger
Kinghorn Centre for Clinical Genomics (KCCG) and St Vincent's Clinical School, Faculty of Medicine,
UNSW, Australia
The human genome contains about 20,000 protein-coding genes, similar in number and functional repertoire to those in
other animals, including nematodes. By contrast, the extent of non-coding DNA increases with increasing developmental
complexity, reaching 98.5% in humans. The vast majority of these sequences are differentially transcribed during
development to produce large numbers of short and long noncoding RNAs (lncRNAs) that are antisense, intergenic or
intronic to protein-coding loci. Unlike miRNAs, whose role in translational regulation is well established, the functions of
lncRNAs, which range from a few hundred bases to over 100 kb in length, are poorly understood. Some lncRNAs are
components of enigmatic subnuclear domains in mammals, but most are highly species- and cell-specific, and appear
to be involved in chromosomal organization and guidance of epigenetic processes to control transcription and splicing,
thereby acting as regulatory switches for development and organogenesis. Moreover, recent advances have shown
that abundant editing and many chemical modifications occur in RNA, termed the epi-transcriptome, which may play
important roles in the dynamic modulation of the RNA structure-function relationships, and hence epigenetic plasticity,
especially in the brain.
This session will present the latest discoveries in the field of lncRNAs and RNA modifications, with important implications
for future studies in human genetics, developmental biology and neuroscience.
Wed(4)-CIS24-1
Journeys through Space and Time: Ultra High-Resolution Expression
Profiling of Long Noncoding RNAs
Department of RNA Biology and Neuroscience, Graduate School of Medicine, Osaka University, Japan
Kinghorn Centre for Clinical Genomics (KCCG) and St Vincent's Clinical School, Faculty of Medicine,
UNSW, Australia
Wed(4)-CIS24-2
Primate-specific A-to-I RNA editing shapes the transcriptome
Marie Öhman
Workshops
Marcel Dinger
Dept. of Molecular Biosciences, The WennerGren Institute, Stockholm University, Sweden
Wed(4)-CIS24-3
The expanding landscape of mRNA methylation
Gideon Rechavi
Cancer Research Center, Sheba Medical Center Tel Aviv University, Israel
Wed(4)-CIS24-4
Role of RNA modification in cognition and memory
Timothy Bredy
University of California Irvine, USA
215
Poster Session
Plenary Lecture
modifications"
Conveners:Yukio Kawahara
ICHG2016
15:00-16:30 (Part 1), 16:45-18:15 (Part 2) Annex 1
SFS1 Special Focus Session 1
"GA4GH, IRDiRC, and Matchmaker Exchange"
Jointly Sponsored by Japan Agency for Medical Research and Development
The International Rare Diseases Research Consortium (IRDiRC) was established in 2011 to promote international
collaboration and encourage the investment of more public and private research funds into the area of rare diseases.
IRDiRC teams up researchers and organizations investing in rare diseases research to achieve two main objectives by
the year 2020: to deliver 200 new therapies for rare diseases and means to diagnose most rare diseases. RDiRC now
encompasses 42 members from all over the world, who are funding bodies/organizations contributing towards IRDiRC
objectives, as well as invited patient advocacy group (EURORDIS, NORD, and the Genetic Alliance). Speakers in this
session will highlight recent developments in rare disease therapeutic development, and innovative approaches to patient
engagement. The session will also present novel approaches to the sharing of genomic data derived from patients, which
is essential to disease gene discovery and thus to diagnosing patients with diseases whose aetiology is not now known.
This initiative, Matchmaker Exchange has been developed jointly by IRDiRC and GA4GH.
The Matchmaker Exchange project was launched in October 2013 to address the challenge finding the genetic
causes for patients with rare disease. Finding just a single additional case with a deleterious variant in the same gene
and overlapping phenotype may provide sufficient evidence to identify the causative gene, but today, case data sits
in isolated databases. This involves a large and growing number of teams and projects working towards a federated
platform (Exchange) to facilitate the matching of cases with similar phenotypic and genotypic profiles (matchmaking)
through standardized application programming interfaces (APIs) and procedural conventions.
The Global Alliance for Genomics and Health was formed to help accelerate the potential of genomic medicine to
advance human health. It brings together over 385 leading institutions working in healthcare, research, disease advocacy,
life science, and information technology. The partners in the Global Alliance are working together to create a common
framework of harmonized approaches to enable the responsible, voluntary, and secure sharing of genomic and clinical
data. Engaging collaboratively with its stakeholders, the Global Alliance works to establish, broadly disseminate, and
advocate for the use of interoperable technical standards for managing and sharing genomic and clinical data.
15:00-16:30 Annex 1
"IRDiRC and Matchmaker Exchange"
Moderator: Paul Lasko
Former Chair of the IRDiRC Executive Committee; Department of Biology, McGill University, Canada
Wed(4)-SFS1.1-1
IRDiRC in its fifth year: A progress report
Paul Lasko
Former Chair of the IRDiRC Executive Committee; Department of Biology, McGill University, Canada
Wed(4)-SFS1.1-2
The National Institutes of Health Undiagnosed Diseases Program and Undiagnosed
Diseases Network
David R. Adams
Uniagnosed Diseases Program, NIH, USA
Wed(4)-SFS1.1-3
Japan Agency for Medical Research and Development (AMED), Rare/Intractable Disease
Project, and Initiative on Rare and Undiagnosed Diseases (IRUD)
Shigeki Kuzuhara
Suzuka University of Medical Science, Graduate School of Health Science, Japan
Wed(4)-SFS1.1-4
New Trends and Novel Technologies in Orphan Drug Development
Carlo Incerti
Global Medical Affairs, Sanofi Genzyme, USA
216
Wed(4)-SFS1.1-5
If you are not at the table, you are on the menu
Sharon F. Terry
April 6 (Wed.)
Program
Wed(4)-SFS1.1-6
Linking International Datasets to Enable Rare Disease Gene Discovery
Han G. Brunner
Radboud University Nijmegen Medical Centre, the Netherlands
Wed(4)-SFS1.1-7
The Challenges and opportunities of connecting different database
Nara Lygia M. Sobreira
John Hopkins University School of Medicine, USA
16:45-18:15 Annex 1
“The Global Alliance for Genomics and Health”
Moderator: Peter Goodhand
Global Alliance for Genomics and Health (Executive Director), Canada
– IRDiRC-GA4GH Collaboration –
Wed(4)-SFS1.2-1
Automatable Discovery and Access Task Team
Clara Gaff
– IRDiRC-GA4GH Collaboration: Matchmaker Exchange –
Plenary Lecture
President and CEO, Genetic Alliance, USA
Wed(4)-SFS1.2-2
GA4GH Overview
Tom Hudson
Global Alliance for Genomics and Health (Chair, Steering Committee); Ontario Institute for Cancer Research, Canada
Workshops
Melbourne Genomics Health Alliance, Australia
– GA4GH Working Groups: Developing Tools and Solutions for Data Sharing –
Poster Session
Wed(4)-SFS1.2-3
Clinical Genomic Data Sharing
Kathryn North
Murdoch Childrens Research Institute, Australia
Wed(4)-SFS1.2-4
Family History Collection
Ingrid M. Winship
Royal Melbourne Hospital; University of Melbourne, Australia
Wed(4)-SFS1.2-5
Genomic Data Sharing Enablers
David Haussler
University of California Santa Cruz, USA
217
ICHG2016
Wed(4)-SFS1.2-6
Regulatory and Ethics Working Group
Kazuto Kato
Osaka University, Japan
– GA4GH Demonstration Projects: Data Shared and Lessons Learned –
Wed(4)-SFS1.2-7
The Beacon Project
Marc Fiume
DNAStack, Canada
Wed(4)-SFS1.2-8
Collaborative Ethics and Governance: From Data Sensitivity to Data Access
Stephanie Dyke
Centre of Genomics and Policy, McGill University, Canada
Wed(4)-SFS1.2-9
The BRCA Challenge
John Burn
Institute of Genetic Medicine Newcastle University Centre for Life, UK
Wed(4)-SFS1.2-10
Public Access Variant Data: Liability?
Adrian Thorogood
Centre of Genomics and Policy, McGill University, Canada
218
15:00-16:30 Annex 2
"Genetics and Genomics in Diabetes and Metabolic Diseases"
April 6 (Wed.)
Program
Genome-wide association studies (GWAS) have identified more than 100 susceptibility loci for type 2 diabetes (T2D),
but most of them are still largely common loci across different ethnicities. In order to identify ethnicity-specific novel
susceptibility loci for T2D, it is important to employ much more SNPs using imputation with individuals from the 1000
Genomes Project as reference populations. It is also important to carry out
genome and exome sequencing in large cohorts, which enables characterization of the role of rare variation in complex
diseases. To assess whether a single variant at a locus contributes to disease risk, the statistical analysis framework is
relatively straightforward: compare the frequencies of alleles or genotypes at the site in relation to phenotype. To assess
whether multiple variants in the same gene contribute to disease, a much larger array of potential genetic models must be
considered, which has led to the development of numerous statistical methods for testing aggregate groups of variants
for association with disease. It is estimated that the human genome contains hundreds of thousands of enhancers, so
understanding these gene-regulatory elements is a crucial goal. About 85% of human DNA under evolutionary constraint
corresponds to non-protein-coding sequences, a sizeable fraction of which constitutes cis-regulatory elements. It is
not surprising, thus, that genetic variation within these regulatory sequences has the potential of resulting in phenotypic
variation and underlies the aetiology of human diseases. Genetic variation in distant enhancers has been linked to several
human Mendelian disorders. Importantly, a number of regulatory variants in enhancers emerging from GWAS hits have
been functionally characterized, and several insights have come out of these studies. Finaly, systematic approaches
for integrating the findings of genetic, biological and pharmacological studies could be useful for developing new T2D
treatments. In this session, most recent data on these issues will be presented.
Wed(4)-SFS2-1
Genetics in T2D
Torben Hansen
The Novo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen, Copenhagen, Denmark
Wed(4)-SFS2-2
Regulatory Variants and Human Diseases
Marcelo Nobrega
Takashi Kadowaki
Department of Diabetes and Metabolic Diseases, The University of Tokyo Hospital, Japan
Workshops
OCDEM, University of Oxford, UK; Wellcome Trust Centre for Human Genetics, University of Oxford
Plenary Lecture
Moderators:Mark I. McCarthy
Wed(4)-SFS2-3
From p-values to proteins: understanding the biology of diabetes and diabetic
complications using human genetics and genomics
Mark I. McCarthy1,2
1
OCDEM, University of Oxford, UK, 2Wellcome Trust Centre for Human Genetics, University of Oxford
Wed(4)-SFS2-4
Type 2 Diabetes: from genes to therapies
Takashi Kadowaki
Department of Diabetes and Metabolic Diseases, The University of Tokyo Hospital, Japan
219
Poster Session
University of Chicago, USA
ICHG2016
16:45-18:15 Annex 2
"Genetics of Deafness"
Moderators:Shin-ichi Usami
Department of Otorhinolaryngology, Shinshu University School of Medicine, Japan
Guy Van Camp
Department of Medical Genetics, University of Antwerp, Belgium
Deafness is a disorder with high genetic heterogeneity; however, over the past two decades a good deal of progress has
been made in identifying many different genes responsible for similar phenotypes. The identification of deafness-causing
genes has been the most influential factor in the recent extensive advances in our knowledge of the biology of hearing. In
terms of clinical applications, the most remarkable aspect of these advances is that ENT clinicians can now make highly
accurate molecular diagnoses through the use of genetic testing, enabling a clearer understanding of the mechanisms
involved, more appropriate and precise treatment selection and greatly improved genetic counseling.
Genetic testing has accordingly become indispensable to the provision of personalized therapeutic intervention
for deafness patients. To date, approximately one hundred genes are estimated to cause non-syndromic hearing
impairment, although a number of these may result in similar phenotypes that entail no symptoms other than hearing
loss. The question, therefore, arises as to how can we reach a clear understanding of the responsible gene in individual
patients. Conventional one-by-one gene screening does not afford an efficient approach because it is too time- and
cost- consuming.
The problem that remains is the large number of patients with deafness of unknown etiology. Recent high-throughput,
next-generation sequencing (NGS) technologies have revolutionized genome research as they can analyze a huge
amount of sequence data in a short time. The advent of NGS technologies has brought deafness research into a new
era. Since it is extremely efficient and cost-effective, comprehensive genetic analysis using NGS platforms has opened
the door to clinical applications, and diagnostic platforms using NGS technologies have been successful in identifying
rare causative mutations in relatively uncommon deafness genes.
In this session, four experts will present their most recent data on the genetics of deafness.
Wed(4)-SFS3-1
Massively parallel DNA sequencing for deafness applied to social health insurance-based
genetic testing
Shin-ichi Usami
Department of Otorhinolaryngology, Shinshu University School of Medicine, Japan
Wed(4)-SFS3-2
Diagnostic applications of deafness research in Europe
Guy Van Camp
Department of Medical Genetics, University of Antwerp, Belgium
Wed(4)-SFS3-3
Genomics of Hereditary Deafness
Karen B. Avraham
Tel Aviv University, Israel
Wed(4)-SFS3-4
Clinical applications of genetic studies for deafness
Chen-Chi Wu
Department of Otolaryngology, National Taiwan University Hospital; Department of Medical Genetics, National Taiwan
University Hospital, Taiwan
220
15:00-16:30 Room A
"Integration of Genomic Information and Electric Health Record
April 6 (Wed.)
Program
Hiroshi Tanaka
Tokyo Medical and Dental University, Japan
The integration of genomic information into electronic health records (EHRs) shows promise to advance the field of
precision medicine. We will present an overview of the current state of adoption of EHRs from select countries, identify
common barriers to successful integration, and describe promising early successes in both the United States (US) and
Japan.
Adoption rates of EHRs have steadily increased, often with significant government support. Despite these positive trends,
significant barriers to the meaningful use of EHRs include, poor usability, lack of data standardization and impaired
interoperability. These same issues impede progress in incorporating genomic information into EHRs. Compounding
these concerns are the ethical and legal implications of integration of genetic information into routine clinical care
including fear of discrimination and privacy violations, patient/provider education on how to utilize genomic information
and equal access to EHRs. We will highlight how data from EHRs have been used successfully to enable genomic
studies and present promising new directions.
As case examples, we will highlight four current initiatives. The Integrated Clinical Omics Database (iCOD), the Tohoku
Medical Megabank (TMM) project, the Electronic Medical Records and Genomics network (eMERGE) and the Action
Collaborative on Developing Guiding Principles for Integrating Genomic Information into the EHR Ecosystem (DIGITizE).
Panelists:
Wed(4)-SFS4-1
Catherine A. Wicklund
Center for Genetic Medicine, Northwestern University, USA
Workshops
Wed(4)-SFS4-2
Center for Genetic Medicine, Northwestern University, USA
Plenary Lecture
Systems"
Moderators:Catherine A. Wicklund
Hiroshi Tanaka
Tokyo Medical and Dental University, Japan
Wed(4)-SFS4-3
Abel Kho
Poster Session
Northwestern University, USA
221
ICHG2016
16:45-18:15 Room A
"IGEN: Do they know what you think they know? Development and
evaluation of health professional education in genetics and genomics"
Moderators:Vajira Dissanayake
Human Genetics Unit, Faculty of Medicine, University of Colombo, Sri Lanka
Akihiro Sakurai
Department of Medical Genetics, Sapporo Medical University, Japan
The proposed program will convene experts from the International Genetics Education Network (IGEN) in the needs
assessment, development and evaluation of genetics education for health professionals. The speakers will describe the
development of various educational programs and different approaches to assessing outcomes of interest in the targeted
populations.
The appropriate integration of genomics into routine practice has the potential to significantly impact patient care,
however, substantial barriers must be overcome. Internationally, health professionals, particularly primary care providers,
have acknowledged a gap in genetics knowledge and skills. A noted lack of confidence about their own genetics
knowledge has prevented physicians from having comprehensive discussions about it with their patients. Further,
physicians may order genetic testing that is inappropriate for the clinical situation and that they do not correctly interpret,
potentially leading to wasted healthcare resources and less than optimal patient outcomes. Physicians also have reported
a lack of understanding about when and how to make referrals for genetic counseling. Physicians have endorsed the
need for more training in areas such as genetic risk assessment, test ordering and interpretation, and counseling and
some groups have developed continuing education programs designed to address these topics.
Wed(4)-SFS5-1
How program evaluation can be applied to genomics education of health professionals
Sylvia Metcalfe
Genetics Education and Health Research, Genetics Theme; Murdoch Childrens Research Institute - The Royal Children's
Hospital, Australia
Wed(4)-SFS5-2
Knowledge translation
June C. Carroll
Department of Family & Community Medicine, Mount Sinai Hospital, University of Toronto, Granovsky Gluskin Family
Medicine Centre, Canada
Wed(4)-SFS5-3
A national coordinated approach to workforce transformation
Michelle Bishop
Genomics Education Programme, Health Education England, Birmingham, UK
Wed(4)-SFS5-4
Telemedicine in the education of health professionals: sickle cell disease as an exemplar
Kunal Sanghavi
McKusick-Nathans Institute of Genetic Medicine - Johns Hopkins University - School of Medicine, Baltimore, MD, USA;
New York Mid-Atlantic Consortium for Genetics and Newborn Screening Services (NYMAC), Baltimore, Maryland, USA
Wed(4)-SFS5-5
Application of evidence-based educational practices
Michael J. Dougherty
American Society of Human Genetics, USA
222
April 6 (Wed.)
Program
15:00-16:30 Room E
"Cardiac Genetics"
Over recent years, there has been a significant increase in referrals to cardiac genetics clinics with an increase in the
availability of genetic testing. The ready availability of large-scale sequencing has led to improved definition of the
molecular cause of these conditions and the development of precision medicine. This should lead to improved diagnosis
and in turn improved therapeutics for these conditions.
In the interim, there continue to be challenges in understanding the molecular basis of these conditions and implementing
this technology into clinical practice in individuals and families.
This session will provide an overview of some of these current opportunities and challenges.
Wed(4)-SFS6-1
Cardiovascular Precision Medicine
Euan Ashley
Medicine/Cardiovascular Medicine and Genetics, Stanford University, USA
Wed(4)-SFS6-2
Successes and Challenges in the Cardiac Genetics Clinic
Julie McGaughran
Genetic Health Queensland, Australia
Wed(4)-SFS6-3
From Mendelian syndromes to blockbuster drugs: the PCSK9 story
Catherine Boileau
Institut National de la Santé et de la Recherche Médicale (INSERM) U698, Hôpital Bichat, France
Wed(4)-SFS6-4
Genetics of long QT syndrome
Wataru Shimizu
Euan Ashley
Medicine/Cardiovascular Medicine and Genetics, Stanford University, USA
Workshops
Genetic Health Queensland, Australia
Plenary Lecture
Moderators:Julie McGaughran
Poster Session
Department of Cardiovascular Medicine, Nippon Medical School, Japan
223
ICHG2016
16:45-18:15 Room E
"Genetics of Skin Diseases"
Moderators:Masashi Akiyama
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
Vinzenz Oji
Department of Dermatology, University Hospital Münster, Münster, Germany
Genodermatoses comprise an enormous spectrum of genetically caused diseases. Human skin – a large organ
protecting our body from various types of external stress - with its immune system, nerves, vessels and appendages, like
nails, hair, sweat glands etc., can be affected by mutations of any gene that is expressed in parts of the multifunctional
organ. Genodermatoses not only refer to monogenetic diseases and are rather seen as Mendelian as more than one
gene might be affected. A current internet search for “skin” in the OMIM database (www.ncbi.nlm.nih.gov/omim/) shows
a number of 3472 entries.
This workshop will provide an overview on major types of genodermatoses. It refers to clinical geneticists, dermatologists
and molecular biologists in order to provide an update on the current clinico-genetic approach for diagnosis. Through
four talks and following interactive discussions international experts will present the large group of disorders of
cornification, skin fragility, inflammatory and immune mediated skin diseases as well as vascular skin diseases. Their
symptoms concern the skin or other organ systems. Various forms of syndromic or non-syndromic diseases will be
discussed. As such speakers will focus on major disease types providing novel genetic insights into the large field of
genodermatology.
Wed(4)-SFS7-1
Keratinization disorders
Vinzenz Oji
Department of Dermatology, University Hospital Münster, Münster, Germany
Wed(4)-SFS7-2
Mutational analysis of dystrophic epidermolysis bullosa
Eijiro Akasaka
Dermatology, Hirosaki University Graduate School of Medicine, Japan
Wed(4)-SFS7-3
Vascular malformations: From diagnosis to therapy
Miikka Vikkula
Human Molecular Genetics, de Duve Institute, Universite catholique de Louvain; Center for Vascular Anomalies, Division
of Plastic Surgery, Cliniques universitaires Saint Luc, Brussels; Walloon Excellence in Lifesciences and Biotechnology
WELBIO, de Duve Institute, Universite catholique de Louvain, Brussels, Belgium
Wed(4)-SFS7-4
Genetic background of generalized pustular psoriasis
Kazumitsu Sugiura
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan
224
April 6 (Wed.)
Program
15:00-16:30 Room B-2
"Genetics of Eye Diseases"
Rando Allikmets
Ophthalmology, Columbia University; Pathology & Cell Biology, Columbia University, New York, USA
It is known that approximately 80% of information our body receives comes as visual information. The visual system
include the anterior part of the eye (cornea, lens and vitreous body) and the posterior part of the eye (retina and optic
nerves). These components focus the incoming light to the retina, which transduces the light signal into neural signals
and passes through the optic nerves to central structures for more elaborate processing, integrating their information
with other sensory information. Any disease that interferes with the function of these components will cause loss of
vision and blindness, and each part of the visual system has specific susceptibilities to genetic background and age.
Genetic factor plays critical role for the onset of various eye diseases and for this reason, genetic research has been
active in this field. Number of leading genetics research such as the world first successful GWAS study on age-related
macular degeneration has been previously demonstrated. Over 250 genes has been associated with eye diseases and
approximately 12,000 gene mutations responsible for retinal diseases alone. In this session, four speakers will focus on
critical eye diseases such as retinitis pigmentosa, myopia, age-related macular degeneration and other hereditary retinal
diseases and introduce the cutting edge genetics analysis and diagnostics. Dr. Allikmets will speak about his recent work
on retinitis pigmentosa, one of the major inherited retinal disease. Dr. Zhang will present his recent work on myopia, a
common eye problem worldwide. Dr. Baird will speak about age-related macular degeneration, the major eye disease for
elderly worldwide. Dr. Iwata will describe the Japan consortium for hereditary retinal diseases.
Wed(4)-SFS8-1
Finding new genes for syndromic retinitis pigmentosa by next-generation sequencing
Rando Allikmets
Ophthalmology, Columbia University; Pathology & Cell Biology, Columbia University, New York, USA
National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Japan
Plenary Lecture
Moderators:Takeshi Iwata
Zhongshan Ophthalmic Center, Sun Yat-sen University, China
Workshops
Wed(4)-SFS8-2
Genetic study on early onset high myopia: A story from whole exome sequencing on 298
probands
Qingjiong Zhang
Centre for Eye Research Australia, University of Melbourne, Australia
Wed(4)-SFS8-4
Genes and molecular mechanisms of hereditary retinal diseases in Japanese population
Takeshi Iwata
National Institute of Sensory Organs, National Hospital Organization, Tokyo Medical Center, Japan
225
Poster Session
Wed(4)-SFS8-3
Investigating gene-gene interactions in AMD to better understand disease
Paul N. Baird
ICHG2016
16:45-18:15 Room B-2
"Genetics of Skeletal Diseases"
Moderator: Shiro Ikegawa
Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Science, Japan
This session focuses on genetic studies on skeletal diseases (both monogenic and polygenic diseases) and invites active
researchers and doctors (all speakers have both MD. and PhD.) from various fields of medical science, including medical
genetics, orthopedics, regenerative medicine, and developmental biology. It is quite co-incidental that all speakers are
from East Asia (or rather it shows the high level of the region).
Prof. Zhang has been working on gene hunting of monogenic diseases. He talks on identification of disease genes for
monogenic skeletal diseases.
Prof. Jiang is a surgeon scientist working on bone and joint diseases from their etiology to treatment. He talks on the
association studies of polygenic bone and joint diseases (osteoarthritis, acetabular dysplasia, etc.).
Prof. Kitoh is also a surgeon scientist and has been working on skeletal dysplasia (monogenic disease of skeleton). He
talks on treatment strategies for short stature in skeletal dysplasias aiming for clinical application.
Prof. Tsumaki is working on the application of induced pluripotent stem cell (iPS) technologies to skeletal biology. He talks
on the use of iPS chondrocytes in the disease modeling of skeletal dysplasia, including his recent epoch-making study
on achondroplasia.
Wed(4)-SFS9-1
Phenotypic Variations in Congenital Limb Malformations
Xue Zhang
McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College,
China
Wed(4)-SFS9-2
The Genetic Research on OA: Goals and Challenges of the Translational Research
Qing Jiang
Joint Surgery, Drum Tower Hospital, China
Wed(4)-SFS9-3
Treatment strategies for short stature in achondroplasia
Hiroshi Kitoh
Orthopaedic Surgery, Nagoya University, Japan
Wed(4)-SFS9-4
Use of induced pluripotent stem cell technologies in disease modeling of skeletal
dysplasia
Noriyuki Tsumaki
Dept. of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Japan
226
15:00-16:30 Room C-1
"Genetics of Kidney Diseases"
April 6 (Wed.)
Program
Wed(4)-SFS10-1
Recent advancement of genetics and therapy in renal genetic diseases
Koichi Nakanishi
Pediatrics, Wakayama Medical University, Japan
Wed(4)-SFS10-2
Genetics and pathophysiology in Fabry nephropathy
David G. Warnock
University of Alabama at Birmingham, USA
Wed(4)-SFS10-3
What Makes Tubules Turn Cystic?
Gregory Germino
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at the National Institutes of Health, USA; Johns
Hopkins School of Medicine, USA
Kidney is composed of glomeruli, tubules, vessels, nerves and interstitial tissue. Various types of cells mutated in genetic
diseases behave abnormally and disrupt normal renal structure and function. There are many renal genetic diseases
caused by either single-gene defect or polygenic defects. Systemic genetic disorders influence kidneys as well. Based on
target genes affected and symptoms, renal genetic diseases are grouped to glomerular disease, renal cystic ciliopathies,
renal tubular disorders, and nephrolithiasis and congenital abnormalities of the kidney and urinary tract.
This workshop will start with an overview in renal genetic diseases, followed by presentation of topics in common three
diseases, Alport syndrome, Fabry nephropathy, and autosomal dominant polycystic kidney disease. These diseases
are found frequently in clinical nephrology all over the world and considered at high risk for progression to renal failure.
Recently discoveries of pathophysiology and molecular biology have brought new therapies to slow the course of the
diseases. In the workshop, international experts provide diagnosis, genetics, pathophysiology, current strategies of
therapy and future direction of curing renal genetic diseases.
Workshops
Internal Medicine, Division of Nephrology and Hypertension, The Jikei University, School of Medicine,
Japan
Plenary Lecture
Moderator: Kazushige Hanaoka
Internal Medicine, Division of Nephrology and Hypertension, The Jikei University, School of Medicine, Japan
227
Poster Session
Wed(4)-SFS10-4
Current strategies for curing autosomal dominant polycystic kidney disease (ADPKD)
Kazushige Hanaoka
ICHG2016
16:45-18:15 Room D
"UCSC Genome Browser - A platform for variant analysis"
Moderator: Robert Kuhn
Center for Biomolecular Science & Engineering, University of California Santa Cruz, USA
The UCSC Genome Browser is widely used as a platform for visualizing genomic data of all sorts. In both the clinic and
the laboratory, the power of the Browser lies in the ability to combine user data (such as uploaded copy-number variants
or SNPs) with data resident on the Browser. Browser-resident data reflect the contributions from many sources including
both benign and pathogenic variants, regulatory regions, epigenomic data and comparative genomics. These resources,
combined all in one location, make the Browser and its tools a powerful platform for inquiry-driven data analysis.
By uploading data as Custom Tracks users may intersect their SNPs with dbSnp, HGMD and UniProt, and their CNVs
with large variant data from DECIPHER, OMIM and other resources. Data profiles can be created and saved for future
reference or for sharing with colleagues using the Saved Sessions utility.
The Variant Annotation Intergrator, a relatively new tool, takes input of SNPs and small indels and facilitates production
of reports of variants and their biochemical consequences such as missense, splice-junction, etc, as well as SIFT and
PolyPhen score, known regulatory sites and conservation score. The Table Browser allows export of lists of genes from
large CNVs. Finally, the Genome Browser-in-a-Box is a downloadable version of the Browser which can be used inside a
firewall for proprietary or sensitive data that cannot be uploaded to UCSC.
228
April 6 (Wed.)
Program
15:00-16:30 Sakura
"Genetic Counseling 1"
Wed(4)-SFS12-1
Expanding Reach and Access to BRCA1/2 Counseling and Testing: One-year Followup Outcomes of a Randomized Non-Inferiority Trial Comparing Telephone and In-Person
Delivery
Anita Y Kinney1, Barbara H Brumbach1, Ji-Hyun Lee1, Rufei Du1, Wendy Kohlmann2,
Amanda Gammon2
1
Cancer Population Sciences, University of New Mexico Comprehensive Cancer Center, USA, 2Huntsman Cancer
Institute, University of Utah, Salt Lake City, Utah
Wed(4)-SFS12-2
Trend analysis of the cases received genetic counseling for HBOC in the Shinshu
University Hospital
Asumi Iesato1, Mayu Ono1, Takaaki Oba1, Yuko Fukushima1, Tokiko Ito1, Toshiharu Kanai1,
Kazuma Maeno1, Ken-ichi Ito1, Emiko Kise2, Masumi Ishikawa2, Hiromi Yamashita2, Kyoko Takano2,
Tomoki Kosho2, Yoshimitsu Fukushima2, Tsuyoshi Miyamoto3, Akiko Takatsu3, Tanri Shiozawa3
1
Division of Breast and Endocrine Surgery, Department of Surgery, Shinshu University School of Medicine, Japan,
Department of Medical Genetics, Shinshu University School of Medicine, 3Department of Obstetrics and Gynecology,
Shinshu University School of Medicine
2
Wed(4)-SFS12-3
Genetic counselling for a case with breast cancer who underwent a whole-exome
sequencing in a private company
Yusuke Ebana, Hiroko Kohbata, Sayako Takahashi, Masayuki Yoshida
Life Science and Bioethics Research Center, Tokyo Medical and Dental University, Japan
Wed(4)-SFS12-4
Hironao Numabe
Genetic Counselling Course, Ochanomizu University, Japan
Workshops
Cancer Population Sciences, University of New Mexico Comprehensive Cancer Center, USA
Plenary Lecture
Moderators:Anita Y. Kinney
Yasmin M Bylstra1,2,3, Jyothi Thrivikraman1, Tamra Lysaght4, Patrick Tan1,5, POLARIS, Singapore
1
Cancer Therapeutics and Stratified Oncology, Genome Institute of Singapore, Singapore, 2Inherited Cardiac Clinic,
National University Heart Centre, Singapore, 3Singapore Health Services, Singapore, 4Centre of Biomedical Ethics,
National University of Singapore, 5Cancer and Stem Biology, Duke-NUS Graduate Medical School, Singapore
Wed(4)-SFS12-5
WISKOTT-ALDRICH SYNDROME: Genetic counseling issues in a large Malaysian family
Premala Muthukumarasamy, Meow Keong Thong, Rifhan Azwani Mazlan
Genetics and Metabolism Unit, Paediatric Department, University Malaya Medical Centre, Malaysia
Wed(4)-SFS12-6
A review of reproductive decisions made by patients with vascular Ehlers-Danlos
syndrome
Jessica M Bowen
Ehlers-Danlos Syndrome National Diagnostic Service, UK
229
Poster Session
Exploring the return of precision oncology results and the implementation of genetic
counselling in Singapore
ICHG2016
16:45-18:15 Sakura
"Genetic Counseling 2"
Moderators:Rosalind J. Hastings
CEQAS, Oxford University Hospitals NHS Foundation Trust, UK
Shinji Kosugi
Department of Medical Ethics/Medical Genetics, Kyoto University School of Public Health, Japan
Wed(4)-SFS13-1
Genomic genetic counselling: same but different
Gemma Brett1,2, Ivan Macciocca1,2, Emma Creed2,3, Melissa Martyn2, Nessie Mupfeki2, Ella Wilkins2,3,
Clara Gaff2, Melbourne Genomics Health Alliance
1
Victorian Clinical Genetics Services, Australia, 2Melbourne Genomics Health Alliance, 3Melbourne Health
Wed(4)-SFS13-2
Genetic counseling: when the east meets the west, can it be modeled?
Anne C Tsai
Pediatics/Genetics, University of Colorado School of Medicine, USA
Wed(4)-SFS13-3
Comparison of two selection strategies based on genetic information when only small
sample size is available
Juan Wang, Ryo Yamada
Statistical Genetics, Center for Genomic Medicine, Graduate School of Medicine Kyoto University, Japan
Wed(4)-SFS13-4
External Quality Assessment of Genetic Counselling: experiences with the first pilot
assessment
Rosalind J Hastings1, Conny MA van Ravenswaaij2, Christi J van Asperen3, Els Dequerker4,
Lisbeth Tranebjaerg5, Livia Garavelli6, Borut Peterlin7
1
CEQAS, Oxford University Hospitals NHS Foundation Trust, UK, 2Dept. of Genetics, University Medical Centre,
Groningen, The Netherlands, 3Clinical Genetics, Leiden University, The Netherlands., 4 Biomedical Quality Assurance
Research Unit, KU Leuven, Belgium, 5Clinical Genetics, University of Copenhagen, Denmark, 6 Dipartimentale di Genetica
Clinica, IRCCS Arcispedale Santa Maria Nuova, REGGIO EMILIA, Italy, 7 Department of Genetics, Ljubljana University
Medical Centre, Ljubljana
Wed(4)-SFS13-5
To assess knowledge and attitudes of Indian patients with inherited retinal disease (IRD)
towards genetic testing and counseling
Siddhita S. Nare1, Radhika Krishnan1, Sundaram Natarajan1,2, Govindasamy Kumaramanickavel2
1
Research Department, Aditya Jyot Foundation for Twinkling Little Eyes, India, 2Aditya Jyot Eye Hospital
Wed(4)-SFS13-6
"Living with Down Syndrome" -Systematic approach of a communication support tool for
notification of Down syndrome
Hiroko Kondo, Keiichi Matsuzaki, Shiho Ishigami, Yokohama Project Booklet Editorial Team
Yokohama Project, Japan
230
April 6 (Wed.)
Program
15:00-16:30 Room I
"Cancer Genetics 1"
Wed(4)-SFS14-1
Immunomodulatory expression quantitative trait loci (eQTLs) and their role in modulation
of cutaneous melanoma (CM) survival and immunotherapy response
Tomas Kirchhoff1,2,3, Matjaz Vogelsang1,2,3, Esma Ucisik-Akkaya1,2,3, Carlos N Martinez1,2,3,
Richard Shapiro4, Anna C Pavlick5,6, Michelle Krogsgaard1,3,7, Iman Osman1,2,5,6
1
Perlmutter Cancer Center, New York University School of Medicine, USA, 2Departments of Population Health and
Environmental Medicine, New York University School of Medicine, 3The Interdisciplinary Melanoma Cooperative Group,
New York University School of Medicine, 4Department of Surgery, New York University School of Medicine, 5Department
of Medicine, New York University School of Medicine, 6Ronald O. Perelman, Department of Dermatology, New York
University, 7Department of Pathology, New York University School of Medicine
Wed(4)-SFS14-2
Identification of a lung cancer growth factor, LASEP1 as a serological and prognostic
biomarker and a therapeutic target
Atsushi Takano1,2, Yusuke Nakamura3, Yataro Daigo1,2
1
Center for Antibody and Vaccine Therapy, Research Hospital, Institute of Medical Science, The University of Tokyo,
Japan, 2Departments of Medical Oncology and Cancer Center, Shiga University of Medical Science, 3Department of
Medicine and Surgery, University of Chicago
Wed(4)-SFS14-3
Germline variant analysis and ancestry inference of 2,153 high-depth whole genomes of
patients afflicted with diverse cancers
Francisco M De La Vega1,2, Dai-Ying Wu3, Suyash Shringarpure1, Sebastian M Waszak4,
Sergei Iakhnin4, Tal Shmaya3, Genevieve Wojcik1, Christopher Gignoux1, Jan Korbel4,
Carlos D Bustamante1, ICGC PCAWAG Network
1
Genetics, Stanford University, USA, 2TOMA Biosciences Inc., Foster City, CA USA, 3Annai Systems Inc., Carlsbad, CA,
USA, 4EMBL, Heidelberg, Germany
Mariko Eguchi
Department of Pediatrics, Ehime University Graduate School of Medicine, Japan
Workshops
NYU Cancer Institute, New York University School of Medicine, USA
Plenary Lecture
Moderators:Tomas Kirchhoff
Kazuyuki Matsushita1,2,3, Kouichi Kitamura2, Minako Beppu1,2,3, Motoi Nishimura1,2,3,
Mamoru Satoh4, Fumio Nomura3,4
1
Department of Molecular Diagnosis, Chiba University Graduate School of Medicine, Japan, 2Chiba University Hospital,
Division of Laboratory Medicine, 3Chiba University Hospital, Division of Clinical Genetics, 4Chiba University Hospital,
Division of Mass Spectrometric Laboratory Diagnosis
Wed(4)-SFS14-5
Targeted Next-Generation Sequencing Identifies a Recurrent Mutation in MCPH1
Associating with Breast Cancer Susceptibility
Katri Pylkas1,2, Tuomo Mantere1,2, Saila Kauppila1, Mervi Grip1, Arja Jukkola-Vuorinen1,
Anna Tervasmaki1,2, Katrin Rapakko2, Robert Winqvist1,2
1
University of Oulu, Finland, 2Northern Finland Laboratory Centre NordLab Oulu
231
Poster Session
Wed(4)-SFS14-4
Alternative splicing as biomarkers for DNA damage response: A novel mechanism of
cancer progression through a single-nucleotides binding/multi-functional protein, FIR
ICHG2016
Wed(4)-SFS14-6
HMGA2 as a potential molecular target in MLL-AF4 positive infant acute lymphoblastic
leukemia
Mariko Eguchi1,2, Minenori Eguchi-Ishimae1, Zhouying Wu1, Wen Ming1, Hidehiko Iwabuki1,
Hisamichi Tauchi1, Eiichi Ishii1,2
1
Department of Pediatrics, Ehime University Graduate School of Medicine, Japan, 2Division of Medical Genetics, Ehime
University Hospital
16:45-18:15 Room I
"Cancer Genetics 2"
Moderators:Gong-Hong Wei
Faculty of Biochemistry and Molecular Medicine & Biocenter Oulu, University of Oulu, Finland
Yoshinori Murakami
Division of Molecular Pathology, Institute of Medical Science, The University of Tokyo, Japan
Wed(4)-SFS15-1
Towards systems understanding of prostate cancer GWAS discoveries
Gong-Hong Wei, Ping Gao, Yuehong Yang, Hang-Mao Lee, Ilaria Svezia, Qilai Huang
Faculty of Biochemistry and Molecular Medicine and Biocenter Oulu, University of Oulu, Finland
Wed(4)-SFS15-2
Population-based assessment of HOXB13 gene for prostate cancer risk, progression and
survival of Finnish men
Csilla Sipeky, Hannu-Pekka Schukov, Elina Kaikkonen, the PRACTICAL/ELLIPSE consortium,
Johanna Schleutker
Medical Biochemistry and Genetics, University of Turku, Finland
Wed(4)-SFS15-3
Whole exome sequencing identifies genomic drivers of local lymph node metastasis in
oral cancer
Nidhan K Biswas1, Subrata Das1,3, Rajiv Sarin2, Sudhir Nair2, Arindam Maitra1,3, Partha P. Majumder1,3
1
Cancer Genomics Group, National Institute of Biomedical Genomics, India, 2Tata Memorial Center, ACTREC, Mumbai,
India, 3National Institute of Biomedical Genomics, Kalyani, India
Wed(4)-SFS15-4
Generation of high-quality DNA from formalin-fixed paraffin embedded tissue for clinical
grade whole genome sequencing: a Genomics England Pilot Study
Pauline Robbe1, Shirley Henderson1, Joanne Mason1, Maite Cabes1, Sara DC Ramos1,
Pavlos Antoniou1, Samantha JL Knight2, Niko Popitsch2, Alexander Kanapin3, Anastasia Samsonova3,
Dimitris Vavoulis1, Jennifer Becq4, Miao He4, Mark Ross4, Zoya Kingsbury4, David Bentley4,
Matthew Parker5, Jenny C Taylor2,6, Clare Verrill7, Clare Turnbull5,8, Anna Schuh1,
The Genomics England Biomedical Research Centres of Imperial College London, Cambridge
University Hospitals, University College London Hospital, Royal Marsden Hospital, King's College
London
1
Oxford Molecular Diagnostics Centre, University of Oxford, Oxford, UK, 2Wellcome Trust Centre of Human Genetics,
University of Oxford, Oxford, UK, 3Molecular Oncology Laboratories, Department of Oncology, University of Oxford,
Oxford, UK, 4Illumina Cambridge Ltd., Chesterford Research Park, Saffron Walden, UK, 5Genomics England, Queen Mary
University of London, London, UK, 6NIHR Comprehensive Biomedical Research Centre, Oxford, UK, 7Cellular Pathology,
John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, UK, 8Division of Genetics and Epidemiology,
Institute of Cancer Research, London, UK
232
Wed(4)-SFS15-5
Dual roles of a cell adhesion molecule, CADM1, in human oncogenesis and its application
to diagnosis and treatment of cancer
April 6 (Wed.)
Program
Rare mutations in base excision repair (BER) pathway genes implicated in breast cancer
susceptibility
Ian Campbell1, Na Li1,2, Ella Thompson1, Simone Rowley1, Paul James1, Alison Trainer1,
Gillian Mitchell1, Lisa Devereux1
1
Peter MacCallum Cancer Centre, Australia, 2Tongji Hospital, Tongji Medical College, Huazhong University of Science and
Technology, Wuhan, Hubei, China
15:00-16:30 Room J
"Clinical Genetics 1"
Moderators:Eric Legius
Department of Human Genetics, University of Leuven, Belgium
Tomoki Kosho
Department of Medical Genetics, Shinshu University School of Medicine, Japan
Wed(4)-SFS16-1
NF1 mutation analysis in segmental neurofibromatosis. New diagnostic technique and
implications for genetic counseling
Eric Legius1, Charlotte Bulteel2, Petra De Haes2, Ludwine Messiaen3, Marie-Anne Morren2,
Kathleen Claes4, Suzanne Marcus5, Raoul Heller6
Poster Session
1
Department of Human Genetics, Catholic University of Leuven, Belgium, 2Clinical Department of Dermatology, University
Hospital Leuven, Belgium, 3Department of Genetics, University of Alabama at Birmingham, USA, 4Center for Medical
Genetics, Ghent University Hospital, Ghent, Belgium, 5Kompetenzzentrum fur Humangenetik, Regensburg, Germany,
6
Institute of Human Genetics, University Hospital, Cologne, Germany
Wed(4)-SFS15-6
Workshops
1
Division of Molecular Pathology, Institute of Medical Sicence, The University of Tokyo, Japan, 2Department of Thoraci
Surgery, Graduate School of Medicine, The University of Tokyo, 3Division of Chemotherapy, National Cancer Research
Center Hospital
Plenary Lecture
Yoshinori Murakami1, Takeshi Ito1, Takehiro Tsuchiya1,2, Hideki Kuwano1,2, Yuki Kumagai1,
Kenji Tamura3, Atsushi Nakajima2
233
ICHG2016
Wed(4)-SFS16-2
Pathophysiological investigation of Ehlers-Danlos syndrome caused by CHST14/D4ST1
deficiency using iPS cells and knockout mice
Tomoki Kosho1,2, Nana Tsumita3,4, Chiaki Masuda5, Takahiro Yoshizawa6, Fengming Yue7,
Yuko Kasahara5, Shuji Mizumoto8, Takuya Hirose9, Masashi Uehara10, Noriko Miyake11,
Ken-ichi Matsumoto12, Yoshitsugu Aoki4, Shuhei Yamada8, Kazushige Takehana9, Jun Nakayama13,
Yoshihiro Nomura3, Yoshimitsu Fukushima1,2, Atsushi Watanabe5, Atsushi Hatamochi14,
Katsunori Sasaki7, Takashi Okada5, Japanese Consortium for DDEDS
1
Division of Clinical and Molecular Genetics, Shinshu University Hospital, Japan, 2Department of Medical Genetics,
Shinshu University School of Medicine, 3Scleroprotein and Leather Research Institute, Tokyo University of Agriculture and
Technology, Faculty of Agriculture, 4Department of Molecular Therapy, National Institute of Neuroscience, National Center
of Neurology and Psychiatry, Tokyo, Japan, 5Department of Biochemistry and Molecular Biology, Nippon Medical School,
6
Division of Laboratory Animal Research, Research Center for Human and Environmental Sciences, Shinshu University,
7
Department of Histology and Embryology, Shinshu University School of Medicine, 8Department of Pathobiochemistry,
Faculty of Pharmacy, Meijo University, 9Department of Veterinary Pathology, School of Veterinary Medicine, Rakuno
Gakuen University, 10Department of Orthopaedic Surgery, Shinshu University School of Medicine, 11Department of Human
Genetics, Yokohama City University Graduate School of Medicine, 12Department of Biosignaling and Radioisotope
Experiment, Interdisciplinary Center for Science Research, Organization for Research, Shimane University, 13Department
of Molecular Pathology, Shinshu University Graduate School of Medicine, 14Department of Dermatology, Dokkyo Medical
University, School of Medicine
Wed(4)-SFS16-3
A child presenting distinct phenotype in severe alternating hemiplegia with a novel
ATP1A3 mutation
Naoko Ishihara1, Hidehito Inagaki2, Misa Miyake1, Yuya Ouchi2, Tamae Ohye2,3, Makiko Tsutsumi2,
Tetsushi Yoshikawa1, Hiroki Kurahashi2
1
Pediatrics, Fujita Health University School of Medicine, Japan, 2Molecular Genetics, Institute for Comprehensive Medical
Science, Fujita Health University, 3Clinical Hematology, Faculty of Medical Technology, Fujita Health University
Wed(4)-SFS16-4
Severe acne scar of the neck in pseudoxanthoma elasticum: Acne as a modifier?
Naoki Oiso1, Yumi Okubo2, Atsushi Utani2, Akira Kawada1
1
Department of Dermatology, Kinki University Faculty of Medicine, Japan, 2Department of Dermatology, Graduate School
of Medicine, Nagasaki University
Wed(4)-SFS16-5
Clinical and demographic evaluation of a holoprosencephaly cohort from the Kyoto
Collection of human embryos
Yu Abe1, Ariel F Martinez1, Paul Kruszka1, Erich Roessler1, Shigehito Yamada2, Maximilian Muenke1
1
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, USA, 2Congenital
Anomaly Research Center, Kyoto University Graduate School of Medicine
Wed(4)-SFS16-6
The Clinical Geneticist as an Expert Witness in Court
Michael A Patton
Medical Genetics, St Georges University of London, UK
234
April 6 (Wed.)
Program
16:45-18:15 Room J
"Clinical Genetics 2"
Atsushi Watanabe
Division of Clinical Genetics, Nippon Medical School Hospital, Japan
Wed(4)-SFS17-1
Hypophosphatasia diagnosed during childhood in Japan
Atsushi Watanabe1,2, Hanako Tajima3, Seiko Nemoto4, Motoko Sasaki1, Maya Kawamura2,
Takashi Okada2, Takashi Shimada1
1
Division of Clinical Genetics, Nippon Medical School Hospital, Japan, 2Department of Biochemistry and Molecular
Biology, Nippon Medical School, 3Department of Pediatrics, Nippon Medical School Hospital, 4Department of Pediatric
Dentistry, Nihon University school of Dentistry at Matsudo
Wed(4)-SFS17-2
Haploinsufficiency of SSUH2 causes autosomal dominant dentin dysplasia type I
Fu Xiong1, Zhisong Ji1, Yanhui Liu2, Yu Zhang1, Lingling Hu1, Qi Yang1, Qinwei Qiu1, Lingfeng Zhao3,
Dong Chen4, Zhihui Tian5, Xuan Shang1, Leitao Zhang5, Xiaofeng Wei1, Cuixian Liu1, Qiuxia Yu1,
Jing Cheng6, Jun Xiong1, Dongri Li7, Huijun Yuan6, Wenqing Zhang3, Xiangmin Xu1
1
Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, China, 2Department
of Prenatal Diagnosis Center, Maternal and Child Health Hospital, China, 3Department of Cell Biology, School of
Basic Medical Sciences, Southern Medical University, China, 4School of Stomatology, Zhengzhou University, China,
5
Department of Stomatology, Nanfang Hospital, Southern Medical University, China, 6Center for Medical Genetics,
Southwest Hospital, Third Military Medical University, China, 7Department of Forensic Science, School of Basic Medical
Sciences, Southern Medical University, China
Dell Pediatric Research Institute, The University of Texas at Austin, USA
Plenary Lecture
Moderators:Richard H. Finnell
Hironori Niizeki1, Maiko Matsuda1, Kazuhiko Nakabayashi2, Atsuhito Seki3, Mikiko Miyasaka4,
Taiji Matsuo5, Shigeki Inui6, Kazue Yoshida1, Kenichiro Hata2, Torayuki Okuyama7
1
Dermatology, National Center for Child Health and Development, Japan, 2Reproductive Biology, National Research
Institute for Child Health and Development, 3Orthopedics, National Center for Child Health and Development, 4Radiology,
National Center for Child Health and Development, 5Endoscopy, Hiroshima University Hospital, Hiroshima, 6Regenerative
Dermatology, Graduate School of Medicine, Osaka University, 7Laboratory Medicine, National Center for Child Health and
Development
Wed(4)-SFS17-4
Clinical and experimental evidence for OTX2 dosage sensitivity in individuals with OculoAuriculo-Vertebral Spectrum
Tiong Yang Tan1,2,3, Sue Price4, Bernadette Hanna5, Naomi Baker2,3, Joanna Roberts6, Hani H Far2,
Mai Raabus2, Amber Boys1, Peter G Farlie2,3
1
Victorian Clinical Genetics Services, Australia, 2Murdoch Childrens Research Institute, Melbourne, Australia,
Department of Paediatrics, University of Melbourne, Melbourne, Australia, 4Clinical Genetics Department, Northampton
General Hospital, Cliftonville, Northampton, United Kingdom, 5Hunter Genetics, Waratah, NSW, Australia, 6Cytogenetics
Laboratory, Churchill Hospital, Headington, Oxford, United Kingdom
3
235
Poster Session
A missense mutation of the SLCO2A1 gene underlies a complete type of
pachydermoperiostosis in 3 Japanese families
Workshops
Wed(4)-SFS17-3
ICHG2016
Wed(4)-SFS17-5
Mutations in Human Capicua Gene Found in Patients with Cerebral Folate Deficiency
Syndrome and in Patients with Spina Bifida
Richard H Finnell1, Yunping Lei1,2
1
Nutritional Sciences and Chemistry, The University of Texas at Austin, USA, 2Fudan University
Wed(4)-SFS17-6
A New Subtype of Multiple-Synostoses Syndrome is caused by a Gain-of-Function
Mutation in GDF6 that Enhances BMP Signaling during Skeletal Development
Jian Wang1, Tingting Yu1, Zhigang Wang2, Satoshi Ohte3, Ru-en Yao1, Qinghua Zhang4,
James F Gusella5, Qihua Fu1, Steven Pregizer3, Vicki Rosen3, Yiping Shen1,6
1
Department of Medical Genetics, Shanghai Children Medical Center, Shanghai Jiaotong University School of Medicine,
China, 2Department of Pediatric Orthopedic, Shanghai Children's Medical Center, Shanghai Jiaotong University School
of Medicine, 3Developmental Biology, Harvard School of Dental Medicine, 4State Key laboratory of Medical Genomics,
Ruijin Hospital, Shanghai Jiaotong University School of Medicine, 5Molecular Neurogenetics Unit and Center for Human
Genetic Research, Massachusetts General Hospital and Harvard Medical School, 6Department of Laboratory Medicine,
Boston Children's Hospital
15:00-16:30 Room K
"Complex Traits Disorders"
Moderators:Jeffery M. Vance
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, USA
Tatsushi Toda
Division of Neurology / Molecular Brain Science, Kobe University Graduate School of Medicine, Japan
Wed(4)-SFS18-1
Full Mitochondrial Genome Sequencing Reveals that the 12S rRNA Mitochondrial sub-unit
is Involved in Migraine Susceptibility in the Genetically Isolated Norfolk Island Population
Shani Stuart, Miles C Benton, David A Eccles, Cassie Albury, Heidi Sutherland, Larisa M Haupt,
Rod A Lea, Lyn R Griffiths
Genomics Research Centre, Queensland University of Technology, Australia
Wed(4)-SFS18-2
Genome-wide association meta-analysis of intracranial aneurysm identifies 8 previously
unknown loci and genes underlying the association
Katsuhito Yasuno1, Yuwei Cheng2, Murat Gunel1,3,
International Intracranial Aneurysm Genetics Study Group
1
Neurosurgery, Yale University School of Medicine, USA, 2Computational Biology and Bioinformatics, Biological and
Biomedical Sciences, Yale University, 3Neurobiology and Genetics, Yale University School of Medicine
Wed(4)-SFS18-3
ABC transporters confer risk in Parkinson Disease
Jeffery M. Vance1,2, Karen Nuytemans1, Lizmarie Maldonado1, Krista John-Williams1, Eden R Martin1,2,
Gary Beecham1,2, William K Scott1,2
1
John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, USA, 2Dr. John T
Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine
236
Div Neurol/Mol Brain Sci, Kobe Univ, Japan, 2Dept Comput Biol, The Univ of Tokyo, 3Cen Integr Med Sci, RIKEN,
Kurume Univ, 5Dept Neurol, Natl Cen Hsp of Neurol and Psy, 6Dept Neurol, Juntendo Univ, 7Dept Neurol, The Univ of
Tokyo, 8Dept Med Genome Sci, The Univ of Tokyo, 9Dept Hum Genet, Yokohama City Univ
4
Wed(4)-SFS18-5
A multi-step approach identifies regions on chromosomes 3 and 17 as highly associated
with Multiple Sclerosis in Italian population
Melissa Sorosina1, Nadia Barizzone2,3, Ferdinando Clarelli1, Santosh Anand4, Sara Lupoli5,
Federica Esposito1,6, Eleonora Mangano4, Roberta Bordoni4, Vittorio Martinelli6, Giancarlo Comi6,
Maurizio Leone2, Daniele Cusi5, Nikolaos A Patsopoulos7,8,9,10, Philip L De Jager7,8,9,10,
Gianluca De Bellis4, Sandra D'Alfonso3, Filippo Martinelli Boneschi1,6, PROGEMUS, PROGRESSO
1
Laboratory of Genetics of Complex Neurological Disorders, Institute of Experimental Neurology, Division of Neuroscience,
San Raffaele Scientific Institute, Italy, 2Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), University of
Eastern Piedmont, Novara, Italy, 3Department of Health Sciences, University of Eastern Piedmont, Novara, Italy, 4National
Research Council of Italy, Institute for Biomedical Technologies, segrate, Milano, Italy, 5Department of Health Sciences,
University of Milan, Italy, 6Department of Neurology and Neurorehabilitation, San Raffaele Scientific Institute, Milan, Italy,
7
Ann Romney Center for Neurologic Diseases, Department of Neurology, Brigham and Women's Hospital, Boston, MA,
8
Harvard Medical School, Boston, MA, 9Program for Medical and Population Genetics, Broad Institute, Cambridge,
MA, 10Program in Translational Neuropsychiatric Genomics, Institute for the Neurosciences, Department of Neurology,
Brigham and Women's Hospital, Boston, MA
Wed(4)-SFS18-6
Gene Discovery in Autism Using a Quantitative Autism Score
Michael Cuccaro1,2, Sonija Luzi2, Eden R Martin1,2, Holly N Cukier1,2, Anthony J Griswold1,2,
John R Gilbert1,2, John P Hussman3, Margaret A Pericak-Vance1,2
Poster Session
1
Dr. John. T. Macdonald Department of Human Genetics, University of Miami Miller School of Medicine, USA, 2John P.
Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, 3Hussman Institute for
Autism, Baltimore, MD, USA
Plenary Lecture
1
Wataru Satake1, Yutaka Suzuki2, Daichi Shigemizu3, Atsushi Takahashi3, Ken Yamamoto4,
Miho Murata5, Nobutaka Hattori6, Tatsuhiko Tsunoda3, Shoji Tsuji7, Michiaki Kubo3, Sumio Sugano8,
Naomichi Matsumoto9, Tatsushi Toda1
Workshops
Wed(4)-SFS18-4
Exome Association study and 2nd SNP-GWAS of Parkinson’s disease in Japan
April 6 (Wed.)
Program
237
ICHG2016
16:45-18:15 Room K
"Molecular Basis of Mendelian Disorders"
Moderators:Mark J. Cowley
Kinghorm Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, Australia
Hirotomo Saitsu
Department of Biochemistry, Hamamatsu University School of Medicine, Japan
Wed(4)-SFS19-1
Developing WGS as a First Line Diagnostic Test for Patients with Mendelian Disorders
Mark J Cowley1,2, Lisa J Ewans1,2, Amali Mallawaarachchi1,5, Andre Minoche1, Mark Pinese1,
Kishore R Kumar1,7, David Miller1, Velimir Gayevskiy1, Yvonne Hort1, Ying Zhu3, Clare Horvat4,
Diane Fatkin4, John Shine1, Tim Furlong5, John Christodoulou6, Andreas Zankl1,6, Carolyn E Sue7,
Tudor Groza1, Michael F Buckley8, Tony Roscioli1,2,9, Marcel E Dinger1,2
1
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia, 2St Vincent's Clinical School,
University of New South Wales, Darlinghurst, NSW, Australia, 3Royal North Shore GOLD Service, Sydney, NSW, Australia,
4
Victor Chang Cardiac Research Institute, Darlinghurst, NSW, Australia, 5Renal Department, St Vincent's Hospital,
Darlinghurst, NSW, Australia, 6Children's Hospital, Westmead, NSW, Australia, 7Kolling Institute of Medical Research,
North Sydney, NSW, Australia, 8SEALS laboratory, Prince of Wales Hospital, Randwick, NSW, Australia, 9Department of
Medical Genetics, Sydney Children's Hospital, Randwick, NSW, Australia
Wed(4)-SFS19-2
Clinical efficiency of exome sequencing as a service for diagnosing hereditary diseases
in Russia
Fedor A Konovalov1,2, Ilya V Kanivets1,2, Denis V Pyankov1,2, Oxana P Ryzhkova1,2, Irina A Akimova1,
Elena L Dadali1,2, Sergey A Korostelev1,2
1
Genomed Ltd., Russia, 2Research Centre for Medical Genetics, Russia
Wed(4)-SFS19-3
Gene Mapping in the Finnish National Collection of Balanced Translocations and
Inversions
Teppo Varilo1,3, Tiia Luukkonen3,4, Minna Poyhonen1, Kalle OJ Simola5, Kristiina Aittomaki1,4,
Jaakko Ignatius6, Aarno Palotie1,2,8, Joseph Terwilliger3,9,10, Riitta Salonen7
1
Department of Medical Genetics, University of Helsinki, Finland, 2FIMM Institute for Molecular Medicine Finland, Helsinki,
Finland, 3National Institute for Health and Welfare, Helsinki, Finland, 4Dept. of Clinical Genetics, Helsinki University
Central Hospital, Helsinki, Finland, 5Dept. of Pediatrics, Tampere University Hospital, Tampere, Finland, 6Dept. of
Clinical Genetics, Turku University Central Hospital, Turku, Finland, 7Dept. of Medical Genetics, Norio-centre, Rinnekoti
Foundation, Helsinki, Finland, 8Broad Institute of Harvard and MIT, Cambridge, MA, United States, 9Columbia Genome
Center, Columbia University, New York, NY, United States, 10New York State Psychiatric Institute, New York, NY, United
States
Wed(4)-SFS19-4
Defining Genetic Causes of Hereditary Spastic Paraplegia with Whole Genome
Sequencing
Kishore R Kumar1,2, G. M. Wail3, Mahesh Kamate4, Andre E Minoche1, Velimir Gayevskiy1,
Marcel E Dinger1, Tony Roscioli1,5, Carolyn M Sue2, Mark J Cowley1
1
Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Australia, 2Kolling Institute of Medical
Research, Royal North Shore Hospital, University of Sydney, Australia, 3KLE Society Hospital, Belgaum, Karnataka, India,
4
Department of Pediatrics, JN Medical College, Belgaum, Karnataka, India, 5Department of Medical Genetics, Sydney
Childrens Hospital, Randwick, Australia
238
Rebecca Schule1,2, Jennifer Reichbauer1, Beibei Chen3, Angelos Skodras1, Stephan Kotschote4,
Adriana Rebelo2, Alleene Strickland2, Stephan Zuchner2, Yang Xie3, Michael Bonin4,
Ludger Schols1, Andres Caballero Oteyza1
1
Hertie Institute for Clinical Brain Research, University of Tubingen, Germany, 2Hussman Institute for Human Genomics,
University of Miami Miller School of Medicine, Miami, Florida, 3Department of Clinical Sciences UT Southwestern Medical
Center, Dallas, TX, 4IMGM Laboratories, Munich, Germany
Wed(4)-SFS19-6
The molecular genetic mechanism of Fahr’s disease and its prevention and treatment
Plenary Lecture
Wed(4)-SFS19-5
Defective RNA metabolism is involved in Hereditary Spastic Paraplegia
April 6 (Wed.)
Program
Poster Session
Workshops
1
Key Laboratory of Molecular Biophysics of the Ministry of Education, School of Life Science and Technology, Huazhong
University of Science and Technology, China, 2School of Chemical Engineering and Pharmacy, Wuhan Institute of
Technology, 3McKusick-Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology,
Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & Peking Union Medical College
Jing Yu Liu1, Xuan Xu1, Cheng Wang1, Junyu Luo2, Xixiang Ma1, Hao Sun1, Xue Zhang3
239
ICHG2016
15:00-16:30 (Part 1), 16:45-18:15 (Part 2), Room B-1
WS2 Workshop 2
"Human Genetics in the Global Health Service: Genetics and Genomics
in Developing Countries"
In order to present genetic information of countries from the developing world, we started discussions in international
meetings, International Federation of Human Genetics Executive and Scientific Committee; Sub-Committee of
Developing Countries; UNESCO; WHO; Latin American Network of Human Genetics (RELAGH); The Human Variome
Project (HVP); Global Alliance for Genomics and Health (GA4GH) among others, and proposed discussions about this
matter.
Social, economic, religious, educational and legal aspects from different countries in our region and their importance on
the future development of Genetic Services have been considered. A research survey among geneticist from Developing
Countries was prepared and the results will be discussed in International Fora.
Some of our groups has led to the discovery of many potential genetic and genomic markers of disease susceptibility,
diagnosis, prognosis and follow up. Validation and integration of new molecular tools, including the new generation of
nucleic acid analysis methods, into clinical practice pose many significant challenges at several levels of health care
systems which need to be addressed.
Possible strategies and future actions for the improvement of the quality of genetic services will be discussed. Several
International initiatives currently aiming to consolidate technologies for genetic testing, aligned with the burden of disease
in these environments will be discussed.
It is hoped that our research work will provide a means to gather information before hand and a forum for discussion
concerning the practice of medical genetics and the importance of genetic education and the planning of effective
medical genetics programs in Global Health Services, for prevention of various genetic conditions in order to reduce their
burden on the health system.
The problems, needs and challenges will be discussed in this workshop.
15:00-16:30 Room B-1
Part 1
Moderator: Aida B. Falcón de Vargas
Venezuelan Central University, Venezuela
Wed(4)-WS2.1-1
Global Genetics Services in a University-affiliated Hospital in Madrid, Spain
Pablo Lapunzina
INGEMM-Instituto de Genética Médica y Molecular-, Hospital Universitario La Paz; IdiPAZ-Instituto de Investigación del
Hospital Universitario La Paz; CIBERER-Centro de Investigación Biomédica en Red de Enfermedades Raras, Spain
Wed(4)-WS2.1-2
Genetic Services and Public Policies in Brazil
Lavinia Schuler-Faccini
Federal University of Rio Grande Do Sul, Brazil
Wed(4)-WS2.1-3
Genetics and Genomics in Mexico
Augusto Rojas-Martinez
Centro De Investigacion Y Desarrollo En Ciencias De La Salud, Universidad Autonoma De Nuevo Leon, Mexico
Wed(4)-WS2.1-4
How can genomics contribute to population health in developing countries? A public
health perspective from Latin America
Victor B. Penchaszadeh
Latin American Bioethics Network, Argentina
240
16:45-18:15 Room B-1
Part 2
Moderators:Aida B. Falcón de Vargas
Venezuelan Central University, Venezuela
Raj Ramesar
MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Disease and
Molecular Medicine, University of Cape Town and Affiliated Hospitals, South Africa
Wed(4)-WS2.2-1
Genetic Services in Mainland China, Taiwan, Hong Kong and Macau
Stephen T.S. Lam
Faculty of Medicine, The Chinese University of Hong Kong, China
Wed(4)-WS2.2-2
Evolution of Medical Genetics to Genomic Medicine Services: The Situation in South
Africa
Raj Ramesar
MRC Human Genetics Research Unit, Division of Human Genetics, Institute of Infectious Disease and Molecular
Medicine, University of Cape Town and Affiliated Hospitals, South Africa
Plenary Lecture
Clinical Genetics Unit, Hospital Vargas de Caracas, Escuela de Medicina JM Vargas, Universidad Central de Venezuela.
Hospital de Clinicas Caracas, Venezuela
Wed(4)-WS2.1-5
Human Genetics in the Global Health Service
Genetics and Genomics in Developing Countries
LATIN AMERICAN REGION
Aida B. Falcón de Vargas
April 6 (Wed.)
Program
Department of Pediatrics, College of Medicine, University of the Philippines Manila; Institute of Human Genetics, National
Institutes of Health, University of the Philippines Manila; Philippine Genome Center, University of the Philippines System,
Philippines
Workshops
Wed(4)-WS2.2-3
Genetic Services in the Philippines
Carmencita D. Padilla
Centre for Human Genetics, University Hospitals Leuven, KU Leuven, Belgium
Wed(4)-WS2.2-5
Genetics and genomic in developing countries: the Malaysian experience
Zilfalil Alwi
Universiti Sains Malaysia, Malaysia
Wed(4)-WS2.2-6
GENOMIC CHALLENGES AND INITIATIVES IN THE FAST EMERGING ECONOMY OF INDIAA PARADIGM FOR THE DEVELOPING COUNTRIES
Dhavendra Kumar
Institute of Cancer & Genetics Genetics, University Hospital of Wales, Cardiff, UK; Genomin Policy Unit, University of
South Wales, Pontypridd, UK; The Genome Medicine Foundation, Cardiff, UK
241
Poster Session
Wed(4)-WS2.2-4
Genetics and Genomics: The Collaboration between Belgium and The Democratic
Republic of Congo
Thomy JL de Ravel
ICHG2016
15:00-16:30 Room C-2
WS3 Workshop 3
"Current Issues of Medical Genetics in Asia"
Moderators:Poh-San Lai
Jin-Sung Lee
Department of Clinical Genetics, Yonsei University College of Medicine, Korea
Medical genetics has indisputably advanced our understanding of many disorders and identified many new genes and
genetic conditions. In many developed countries, genomic medicine is providing clinicians with new tools and knowledge
to diagnose, treat and manage patients based on individual genetic profiles. In Asia, improvements in healthcare over
the decades have led to lower infant mortality rates and higher life expectancies. However, despite being home to more
than half of the world’s population and with six of the 10 largest nations in the Asia Pacific region, there are disparities
among different countries in Asia with regards to issues such equity and access to molecular genetic testing; scope of
newborn and population screening programs; adequacy of genetic services coverage under national healthcare systems;
availability of sufficient trained clinical geneticists and genetic counselors; extent of knowledge and understanding in new
genetic testing technologies like array CGH, non-invasive prenatal screening, next-gen sequencing, etc. among primary
care providers and specialists; regulatory control of genetic testing and the role of direct-to-consumer companies;
challenges in genomic medicine such as handling of incidental findings from NGS testing, barriers for clinical trials for
genetic disorders, etc.
As precision medicine is poised to shift the way healthcare is managed and how patients are diagnosed and treated all
over the world, this workshop aims to promote dialogue in this area to better understand the issues faced and to explore
novel approaches to drive the practice of medical genetics in Asia. The audience will be invited to submit questions
which will be addressed by members of the Panel.
Wed(4)-WS3-1
Genomic Medicine and Medical Genetics Service in Vietnam
Vu Chi Dũng
Department of Medical Genetics, Metabolism and Endocrinology, National Hospital of Pediatrics, Hanoi, Vietnam
Wed(4)-WS3-2
National genetic screening and molecular testing program in Thailand
Suthat Fucharoen
Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Salaya Campus, Nakornpathom,
Thailand
Wed(4)-WS3-3
Medical genetics services in Malaysia: Challenges and the way forward
Meow-Keong Thong
Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur,
Malaysia
Wed(4)-WS3-4
Genetic Testing in China
Xue Zhang
McKusick-Zhang Center for Genetic Medicine, Chinese Academy of Medical Sciences & Peking Union Medical College,
China
242
Wed(4)-WS3-6
Clinical Genetics in Japan
Yoshimitsu Fukushima
Poster Session
Workshops
Ex-President, The Japan Society of Human Genetics; Professor, Department of Medical Genetics, Shinshu University
School of Medicine, Japan
Plenary Lecture
Department of Pediatrics,College of Medicine, University of the Philippines Manila; Institute of Human Genetics, National
Institutes of Health, University of the Philippines Manila; Newborn Screening Reference Center, National Institutes of
Health, University of the Philippines Manila, Philippines
Wed(4)-WS3-5
Basic and Expanded Newborn Screening: Setting the Stage for Low Income and Middle
Income Countries
Carmencita D. Padilla
April 6 (Wed.)
Program
243
ICHG2016
16:45-18:15 Room C-2
WS4 Workshop 4
"HUGO-PAPGI (Pan-Asian Population Genomics Initiative)"
Moderators:Sumio Sugano
Department of Medical Genome Sciences, Graduate School of Frontier Sciences, The University of Tokyo,
Japan
Poh-San Lai
The HUGO Pan-Asian Population Genomics Initiative (HUGO-PAPGI) is a collaborative international effort to
systematically collect, analyse and understand the genetic diversity of the Asian populations. The main objective of this
consortium is to unravel patterns in genomic diversity modulating phenotypic traits and thus contribute to the baseline
data for understanding genomic diversity and healthcare interventions in this area. Additionally, it also aims to develop
a framework for exchange and sharing of resources, expertise and training between countries. HUGO-PAPGI had its
roots from the HUGO-HUGO Pan-Asian SNP consortium which had characterized genome-wide SNPs across 73 Asian
population groups in order to map human genetic diversity in Asia (Science, 11 Dec 2009:ol. 326, Issue 5959, pp.
1541-1545, DOI: 10.1126/science.1177074). This workshop highlights work from PAPGI members in unraveling the
geographic structure of genetic variation across the continents and in searching for disease-associated genes.
Wed(4)-WS4-1
HUGO-PAPGI (Pan-Asian Population Genomics Initiative) update
Jong Bhak
Bioengineering, UNIST, Korea
Wed(4)-WS4-2
Spatially explicit models and whole genome analysis for reconstructing the colonisation
of Asia
Anders Eriksson
Integrative Systems Biology Lab, Division of Biological and Environmental Sciences & Engineering, King Abdullah
University of Science and Technology, Saudi Arabia
Wed(4)-WS4-3
Population structure and admixture history of East Asian populations
Shuhua Xu
CAS-MPG Partner Institute for Computational Biology (PICB), China
Wed(4)-WS4-4
Genomic analyses reveal insights into indigenous diversity and divergence in South East
Asia
Maude Phipps
Jeffrey Cheah School of Medicine & Health Sciences, Monash University Malaysia
Wed(4)-WS4-5
Complete sequencing and characterization of three human genomes from Indian
subcontinent
Harish Padh
Sardar Patel University, India
244
Poster Session
Workshops
Department of Human Genetics, Graduate School of Medicine, The University of Tokyo, Japan
Plenary Lecture
Wed(4)-WS4-6
Search for disease-associated genes by ethnic specific SNP array and genome-wide
imputation based on large-scale whole-genome sequencing: Application to cold medicine
related Stevens-Johnson syndrome (CM-SJS) with severe ocular complications (SOC)
Katsushi Tokunaga
April 6 (Wed.)
Program
245
ICHG2016
Poster Session
Wednesday, April 6 13:45-14:45
Wed(4)-P-7
Statistical Genetics and Genetic
Epidemiology
Understanding gene expression changes in
Systemic Lupus Erythematosus through a
systems approach
Wed(4)-P-1
Tingyou Wang, Yongfei Wang, Yan Zhang,
Mengbiao Guo, Jing Yang, Wanling Yang
Effect sizes in genetic-epidemiological studies
of complex diseases
The University of Hong Kong, Hong Kong
Michael Nothnagel1, Sabine Siegert1, Andreas Wolf2,
David N Cooper3, Michael Krawczak2
Wed(4)-P-8
1
Cologne Center for Genomics, University of Cologne,
Germany, 2Institute of Medical Informatics and Statistics,
Christian-Albrechts University Kiel, 3Institute of Medical
Genetics, Cardiff University
Identification of predisposing genes in severe
neural tube defects by whole exome sequencing
in multiplex families
Wed(4)-P-3
Philippe Lemay1, Alexandre Dionne-Laporte3,
Dan Spiegelman3, Edouard Henrion3, Ousmane Diallo3,
Patrizia De Marco2, Elsa Merello2, Guy A. Rouleau3,
Valeria Capra2, Zoha Kibar1
Comparison of methods for meta-analysis of
binary traits with linear mixed models
1
Universite de Montreal, Canada, 2Gaslini Hospital, Genova,
Italy, 3Montreal Neurological Institute, McGill University,
Montreal
James P Cook, Andrew P Morris
Department of Biostatistics, University of Liverpool, UK
Wed(4)-P-9
Wed(4)-P-4
Multivariate binary model for powerfull disease
mapping
High-density Association Mapping and
Interaction Analysis of PLA2R1 and HLA Regions
with Idiopathic Membranous Nephropathy in
Japanese
1
Susana Eyheramendy, Fernando Crespo
Statistics Department, Pontificia Universidad Catolica de
Chile, Chile
Myo Thiri , Kenjiro Honda , Hodaka Suzuki ,
Tsuyoshi Watanabe3, Eisei Noiri2,4, Katsushi Tokunaga1
2
3
Wed(4)-P-10
1
Department of Human Genetics, School of International
Health, The University of Tokyo, Japan, 2Department of
Nephrology and Endocrinology, The University of Tokyo
Hospital, 3Department of Nephrology, Hypertension,
Diabetology, Endocrinology and Metabolism, Fukushima
Medical University School of Medicine, 4Department of
Hemodialysis and Apheresis, The University of Tokyo Hospital
A novel computational tool for genome-tophenotype prediction using VaDE, a manuallycurated database of reproducible associations
between various traits and genomic
polymorphisms
Tadashi Imanishi1, Yasuko Takahashi1,2, Miho Sera1,
Kentaro Mamiya1, Takuya Habara1
Wed(4)-P-5
1
Department of Molecular Life Science, Tokai University
School of Medicine, Japan, 2Institute for Genome Research,
The University of Tokushima
Familial aggregation of Dupuytren's disease
Laetitia Michou1,2, Valerie Chaudru3, Daniel Cloutier4,
Elisabeth Petit-Teixeira3
1
CHU de Quebec-Laval University, Canada, 2Division of
Rheumatology, Department of Medicine, Laval University and
CHU de Quebec Research Centre, Quebec, QC, Canada,
3
GenHotel-EA3886, Evry-Val d'Essonne University, France,
4
Division of Plastic Surgery, Department of Surgery, Laval
University and CHU de Quebec research centre, Quebec,
QC, Canada
Wed(4)-P-11
Comparison of different approaches to genebased association analysis of complex traits
Nadezhda M. Belonogova, Gulnara R. Svishcheva,
Anna A. Torgasheva, Pavel M. Borodin,
Tatiana I. Axenovich
Institute of Cytology & Genetics, Russia
Wed(4)-P-6
Autosomal SNPs Genotyping for Identification
of Missing Casualties
Wed(4)-P-12
Smooth-threshold multivariate genetic
prediction with unbiased model selection
Jung-Hyun Park, Seung-Bum Hong
Division of DNA Analysis, Scientific Investigation Laboratory,
Criminal Investigation Command, Ministry of National Defense,
Korea, South
Masao Ueki1, Gen Tamiya2
1
Biostatistics Center, Kurume Unviersity, Japan, 2Tohoku
Medical Megabank Organization, Tohoku University
246
Shamsa Kanwal, Muhammad Aslamkhan
Human Genetics and Molecular Biology Department,
University of Health Sciences, Pakistan
Mariza Andrade1, Sebastian M Armasu1,
Bryan M McCauley1, Tanya M Petterson1, John A Heit2
1
Health Sciences Research, Mayo Clinic, USA,
Cardiovascular Diseases, Mayo Clinic
2
Wed(4)-P-14
Detecting gene-gene interactions for survival
phenotypes using a unified multifactor
dimensionality reduction analysis
Wed(4)-P-20
Gene-gene interaction among genes on
transforming growth factor-β signaling pathway
for non-syndromic cleft lip with or without cleft
palate in Chinese populations
Taesung Park1, Yongkang Kim1, Wenbao Yu2,
Seungyeoun Lee3
1
Statistics, Seoul National University, Korea, South, 2University
of Pennsilvania, 3Sejong University
Zhuqing Wang1, Tao Wu1, Holger Schwender2,
Ingo Ruczinski3, Jeffrey Murray4, Mary Marazita5,
Ronald Munger6, Ping Wang7, Richard Redett3,
Yah Huei Wu-Chou8, Samuel Chong9, Vincent Yeow10,
Hong Wang1, Ethylin Jabs3,11, Bing Shi12, Sun Ha Jee13,
Alan Scott3, Terri Beaty3
Wed(4)-P-15
Risk factors, Insulin-Like Growth Factor-1 gene
polymorphism and Breast Cancer Risk among
Omani Women: A Case-Control Study
Family Medicine and Public Health, Sultan Qaboos University,
UK, 2University of Manchester, 3Sultan Qaboos University
Hospital, 4Royal Hospital
Peking University, China, 2Heinrich Heine University
Duesseldorf, 3 Johns Hopkins University, 4University of Iowa,
5
University of Pittsburgh, 6Utah State University, 7Beijing
center for disease prevention and control, 8Chang Gung
Memorial Hospital, 9National University of Singapore, 10KK
Women and Children Hospital, 11Mount Sinai Medical Center,
12
Sichuan University, 13Yonsei University
Wed(4)-P-16
Wed(4)-P-21
1,2
1
Kawthar Alajmi , Mansour S Al-Moundhri ,
Shyam S Ganguly1, Adil Alajmi1,3, Zahid Al Mandhari4
1,3
1
Detecting and simulating heritability due to
large-scale, cumulative epistatic effects
Exploring Disease Co-inheritance Patterns in
High Quality Pedigrees from Collection of Family
Health History Obtained in a Primary Care
Setting
Jacob B. Hall, Jeremy R. Fondran, William S. Bush
Department of Epidemiology and Biostatistics, Institute for
Computational Biology, USA
Lori A Orlando1, Rachel A Myers1, Adam H Buchanan2,
R Ryanne Wu1, Geoffrey S Ginsburg1,
Elizabeth R Hauser1
Wed(4)-P-17
1
Medicine, Duke University, USA, 2Geinsinger Health System
A comprehensive evaluation of family-based
association tests for qualitative traits; usability,
type-I error and power
Tero S Hiekkalinna1,2, Markus Perola1,2,3,
Joseph D Terwilliger1,4,5
Poster Session
1
Genomics and Biomarkers Unit, National Institute for Health
and Welfare, Finland, 2Institute for Molecular Medicine Finland
FIMM, 3University of Tartu, Estonian Genome Center, Tartu,
Estonia, 4Department of Psychiatry, Department of Genetics
and Development, Gertrude H. Sergievsky Center, Columbia
University, New York, USA, 5Division of Medical Genetics, New
York State Psychiatric Institute, New York, USA
Plenary Lecture
Gene-Environment Interactions using time to
event is more effective than using case-control
approach: VTE case study
Wed(4)-P-19
Genetic Epidemiology of Breast Cancer in a
Less Developed District Bahawalnagar, Pakistan
Workshops
Wed(4)-P-13
April 6 (Wed.)
Program
Wed(4)-P-18
Properties of Global and Local Ancestry
Adjustments in Genetic Association Tests
Eden R. Martin1, Ilker Tunc2, Zhi Liu1,
Robert C. Obrien1, Carlos D. Bustamante3,
Gary W. Beecham1
1
Hussman Institute for Human Genomics, University of Miami,
USA, 2National Heart, Lung, Blood Institute, NIH, 3Department
of Genetics, Stanford University
247
ICHG2016
Wed(4)-P-22
Genome structure, variation and function
Evidence of Gene-Gene Interaction among CellCell Adhesion Genes for Nonsyndromic Cleft
Palate in Chinese
Wed(4)-P-24
The functional RAI1-interactome analysis:
Implications for molecular pathogenesis of
Smith-Magenis syndrome
Yuan Yuan1, Holger Schwender2, Ingo Ruczinski3,
Jeffrey C Murray4, Mary L Marazita5, Ronald G Munger6,
Ping Wang7, Richard J Redett8, Yah Huei Wu-Chou9,
Samuel S Chong10, Vincent Yeow11, Hong Wang1,
Ethylin W Jabs8,12, Bing Shi13, Sun Ha Jee14, Tao Wu1,
Alan F Scott8, Terri H Beaty3
Shu-Ting Chen1, Masashige Bando1, Sarah H. Elsea2,
Ian D. Krantz3, Katsuhiko Shirahige1, Kosuke Izumi1
1
Molecular and Cellular Biosciences, The University of Tokyo,
Japan, 2Dept. of Molecular and Human Genetics, Baylor
College of Medicine, 3Div. of Human Genetics, The Childrens
Hospital of Philadelphia
1
Department of Epidemiology and Bio-statistics, Peking
University Health Science Center, Beijing, China,
2
Mathematical Institute, Heinrich Heine University Duesseldorf,
Duesseldorf, Germany, 3Johns Hopkins University, School of
Public Health, Baltimore, Maryland, United States of America,
4
University of Iowa, Children's Hospital, Iowa City, Iowa,
United States of America, 5Center for Craniofacial and Dental
Genetics, School of Dental Medicine, University of Pittsburgh,
Pittsburgh, Pennsylvania, United States of America, 6Utah
State University, Logan, Utah, United States of America,
7
Beijing Center for Disease Prevention and Control, Beijing,
China, 8Johns Hopkins University, School of Medicine,
Baltimore, Maryland, United States of America, 9Chang Gung
Memorial Hospital, Taoyuan, Taiwan, 10National University of
Singapore, Singapore, Singapore, 11KK Women's & Children's
Hospital, Singapore, Singapore, 12Mount Sinai Medical
Center, New York, New York, United States of America,
13
State Key Laboratory of Oral Disease, West China College
of Stomatology, Sichuan University, Chengdu, China, 14Yonsei
University, School of Public Health, Seoul, Korea
Wed(4)-P-25
Whole-exome sequencing enables copy-number
variation analysis in the lower kilobase range
Maria Schotik1,2,3,4, Filippo Beleggia1,3,4, Ferda Percin5,
Janine Altmueller1,6, Holger Thiele6, Peter Nuernberg4,6,
Bernd Wollnik1,3,4,7
Wed(4)-P-23
1
Institute of Human Genetics, University Hospital of Cologne,
Cologne, Germany, 2Cologne Graduate School of Ageing
Research, Cologne, Germany, 3Center for Molecular Medicine
Cologne (CMMC), Cologne, Germany, 4Cologne Excellence
Cluster on Cellular Stress Responses in Aging-Associated
Diseases (CECAD), Cologne, Germany, 5Department of
Medical Genetics, Faculty of Medicine, Gazi University,
Ankara, Turkey, 6Cologne Center for Genomics, University of
Cologne, Cologne, Germany, 7Institute of Human Genetics,
University Medical Center Goettingen, Goettingen, Germany
A workbench for family-based genetic analysis
using next-generation DNA sequencing data
Wed(4)-P-26
Gene Expression Profiling of Motor Neuron
in Motor Neuron-Specific 26S Proteasome
Conditional Knockout Mice
Sungyoung Lee1, Sungkyoung Choi1, Joon Yoon1,
Taesung Park1,2, Sungho Won1,3
1
Interdisciplinary Program in Bioinformatics, Seoul National
University, Korea, South, 2Department of Statistics, Seoul
National University, 3Graduate School of Public Health, Seoul
National University
Tomonori Hoshino1, Hirofumi Yamashita1,
Yoshitaka Tashiro2, Hidemi Misawa3, Okiru Komine4,
Koji Yamanaka4, Makoto Urushitani1,
Ryosuke Takahashi1
Wed(4)-P-23A
1
Department of Neurology, Graduate School of Medicine,
Kyoto University, Japan, 2SK Project, Medical Inovation
Center, Kyoto Univeristy, 3Department of Pharmacology,
Faculty of Pharmacy, Keio University, 4Department of
Neuroscience and Pathobiology, Research Institute of
Environmental Medicine, Nagoya University
Targeted sequencing of Late-Onset Alzheimer
Disease Loci Identifies Genomic Regions with
Potential Functional Variants
Margaret Pericak-Vance1, Brian W Kunkle1,
Regina M Carney2, Martin A Kohli1, Naj C Adam1,3,
Hamilton L Kara1, Whitehead L Patrice1,
Wang Liyong1, Cuccaro L Michael1, Vance M Jeffery1,
Byrd Goldie4, Beecham W Gary1, Gilbert R John1,
Haines L Jonathan5, Martin R Eden1
Wed(4)-P-27
Signature microRNA expression patterns
identified in Williams syndrome
1
John P. Hussman Institute for Human Genomics, University
of Miami, USA, 2Department of Psychiatry & Behavioral
Sciences, University of Miami, Miami, FL, 3Department of
Biostatistics & Epidemiology, University of Pennsylvania,
Philadelphia, PA, 4Department of Biology, North Carolina A &
T State, Greensboro, NC, 5Department of Epidemiology and
Biostatistics, Case Western Reserve University, Cleveland, OH
Masatoshi Nakata1, Ryo Kimura1, Kiyotaka Tomiwa2,
Tomonari Awaya3, Takeo Kato3, Yasuko Funabiki4,
Toshio Heike3, Masatoshi Hagiwara1
1
Anatomy and Developmental Biology, Kyoto University
Graduate School of Medicine, Japan, 2Todaiji Medical and
Educational Center, 3Pediatrics, Kyoto Graduate School of
Medicine, 4Human Coexistence, Kyoto University Graduate
School of Human and Environmental Studies
248
Plasma miRNA Expression Profiles in
Rheumatoid Arthritis Associated Interstitial
Lung Disease
Jiangshan Shen, Wanling Yang
HKU, Hong Kong
Shomi Oka1,2, Hiroshi Furukawa1,2, Kota Shimada2,3,
Atsushi Hashimoto2, Akiko Komiya2, Naoyuki Tsuchiya1,
Shigeto Tohma2
Wed(4)-P-29
1
Effects of topical mupirocin on the composition
and abundance of the nasal microbiome in
healthy carriers with Staphylococcus aureus
Faculty of Medicine, University of Tsukuba, Japan,
Sagamihara Hospital, National Hospital Organization,
Department of Rheumatic Diseases, Tokyo Metropolitan
Tama Medical Center
Su-Hsun Liu1,2, Yi-Ching Tang2, Hsiang-Yuan Yeh2,
Yhu-Chering Huang1,2, Leslie Y Chen2
Wed(4)-P-36
Chang Gung University, Taiwan, 2Chang Gung Memorial
Hospital
Analysis of copy number alteration and
clinicopathological features in breast cancer
Wed(4)-P-30
Fumi Taira1,2, Kaoru Mogushi3, Mitsue Saito1,
Yoshinori Murakami2
2
3
1
Inherited genes without SNP defects (that could
predispose a person to diseases), is the single
most key to longevity among 95+ individuals
1
Breast Surgery and Oncology, Juntendo University, Japan,
Division of Molecular Pathology, The Institute of Medical
Science, The Univ. of Tokyo, 3Center for Genomic and
Regenerative Medicine, Juntendo University
2
Girish J Kotwal
Medicine, UMass Medical School, USA
Wed(4)-P-37
Identification of the genes regulated by ZFAT in
T cells through ChIP-seq analysis
Wed(4)-P-31
Identification of OCTN2 variants and their
association with phenotypes of Crohn's disease
Keiko Doi1,2, Toshiyuki Tsunoda1,2, Midori Koyanagi1,2,
Shuhei Ishikura1,2, Yoko Tanaka1,2,
Kazuhiko Nakabayashi3, Senji Shirasawa1,2
Eun Young Kwon, Hyo Jin Park, Ji Ha Choi
1
Department of Cell Biology, Faculty of Medicine, Fukuoka
University, Japan, 2Central Research Institute for Advanced
Molecular Medicine, Fukuoka University, 3Department of
Maternal-Fetal Biology, National Research Institute for Child
Health and Development
Department of Pharmacology, Tissue Injury Defense Research
Center, School of Medicine, Ewha Womans University, Korea,
South
Wed(4)-P-32
Diagnostic Yield in Autism Spectrum
Disorder using Illumina Dense SNP Array and
Association of CNVs in ASD/ID genes and ASDsubphenotyes
Plenary Lecture
Wed(4)-P-35
Sex-specific eQTLs and Their Implications in
Gene Expression Regulation and Disease
Wed(4)-P-28
April 6 (Wed.)
Program
Sulman Basit1,2, Alia Albalawi1, Muhammad Iqbal3,
Laila Al-Ayadhi3
Ben-Yang Liao, Ting-Yan Chang
Taibah University Almadinah, Saudi Arabia, 2Quaid-i-Azam
University Islamabad, 3King Saud University Riyadh
Intitute of Population Health Sciences, National Health
Research Institutes, Taiwan
Wed(4)-P-33
Wed(4)-P-39
The autism-associated long noncoding RNA
MSNP1AS regulates a network of genes involved
in neuronal process stability
One cannot presume siblings with similar
clinical findings result from the same underlying
genetic cause!-familial genome instability or
leaky proof reading mechanism as a genetic
predisposition?
1
Jessica DeWitt1, Nicole Grepo1, Brent Wilkinson1,
Kevin Morris2, James A Knowles1, Daniel B Campbell1
Anne Chun-hui Tsai1,2, Kory Keller2, Jassica Kushner2,
Karen Kovak2, Stephen Moore2
1
University of Southern California, USA, 2The Scripps
Research Institute, La Jolla, CA USA
1
Pediatrics/Genetics and metabolism, University of Colorado
School of Medicine, USA, 2Division of Genetics and
Metabolism, OHSU
Wed(4)-P-34
Anti-dsDNA IgG antibodies down-regulated
mesangial cells miR-10a expression and
increased CREB1 gene expression inducing cell
proliferation
Pattarin Tangtanatakul, Asada Leelahavanichakul,
Alain Jacquet, Trairak Pisitkul, Rangsima Reantragoon,
Yingyos Avihingsanon, Nattiya Hirankarn
Chulalongkorn University, Thailand
249
Poster Session
The evaluating of methods for the inference of
ecological interactions in bacterial communities
using horizontal gene transfer events
Workshops
Wed(4)-P-38
ICHG2016
Wed(4)-P-41
Wed(4)-P-45
Association analysis between the clinical factors
of primary open-angle glaucoma and the risk
allele of CDKN2B-AS1 variant
Functional partitioning of local and distal gene
expression regulation in human tissues
Xuanyao Liu1, Hilary K Finucane1,2, Alexander Gusev1,
Gaurav Bhatia1, Brendan Bullik-Sullivan3,4,
Fred A Wright5, Patrick F Sullivan6, Benjamin M Neale3,4,
Alkes L Price1,7
Yoko Ikeda1, Kazuhiko Mori1, Morio Ueno1,
Yuji Yamamoto1, Kengo Yoshii2, Kojiro Imai1,
Yuko Maruyama1, Ryuichi Sato3, Fumiko SAto3,
Masakazu Nakano3, Kei Tashiro3, Shireru Kinoshita4,
Chie Sotozono1
1
Harvard Chan School of Public Health, USA, 2Department
of Mathematics, Massachusetts Institute of Technology,
Cambridge, Massachusetts, USA, 3Analytic and Translational
Genetics Unit, Massachusetts General Hospital and Harvard
Medical School, Boston, Massachusetts, USA, 4Stanley
Center for Psychiatric Research, Broad Institute of MIT and
Harvard, Cambridge, Massachusetts, USA, 5Bioinformatics
Research Center, North Carolina State University, North
Carolina, USA., 6Department of Genetics, University of North
Carolina at Chapel Hill, Chapel Hill, North Carolina, USA,
7
Program in Medical and Population Genetics, Broad Institute
of MIT and Harvard, Cambridge, Massachusetts, USA
1
Ophthalmology, Kyoto Prefectural University of Medicine,
Japan, 2Medical Statistics, Kyoto Prefectural University of
Medicine, 3Genomic Medical Sciences, Kyoto Prefectural
University of Medicine, 4Frontier Medical Science and
Technology for Ophthalmology, Kyoto Prefectural University of
Medicine
Wed(4)-P-42
The detection of transposon sequences in RNA
sequence
Wed(4)-P-46
Shiro Yamada1,2, Takahide Hayano1,
Hirohumi Nakaoka1, Jumpei Ito1, Kazuyoshi Hosomichi3,
Ryota Sugimoto1, Ituro Inoue1
Correlation of the expression with FLT3 and
RAC1 with the leukaemic fusion gene AML1MTG8 in AML M2
1
Department of Human Genetics, National Institute of
Genetics, Japan, 2Children Clinic Sone, Takasaki, Japan,
3
Department of Bioinformatics and Genomics, Graduate
School of Medical Sciences, Kanazawa University
Adam Azlan1, Saifulaman Said1, Narazah Yusoff2,
Emmanuel J Moses2, Nur Ainina Abdollah2
1
Faculty Of Applied Sciences, Universiti Teknologi MARA,
Malaysia, 2Universiti Sains Malaysia
Wed(4)-P-43
Microelectrode array captures seizure-like
activity due to down-regulation of microRNA-128
Wed(4)-P-47
Improving smear-negative tuberculosis
diagnosis through gene expression signatures
K. Melodi McSweeney1,2, Ayal B Gussow1,3,
Shelton Bradrick4, Slave Petrovski1, David Goldstein1
Nusara Satproedprai1, Sirilada Suphankong1,
Nuanjun Wichukchinda1, Licht Toyo-oka2,
Tassawan Kuntima3, Hideki Yanai4, Katsushi Tokunaga2,
Surakameth Mahasirimongkol1
1
Genetics; Institute for Genomic Medicine, Columbia
University, USA, 2University Program in Genetics and
Genomics; Duke University, NC, 3Computational Biology
and Bioinformatics; Duke University, NC, 4Biochemistry and
Molecular Biology, University of Texas Medical Branch, TX
1
Department of Medical Sciences, Medical Life Science
Institute, Thailand, 2Department of Human Genetics, Graduate
School of Medicine, the University of Tokyo, 3TB-HIV
Research Foundation, Chiangrai, Thailand, 4Fukujuji Hospital,
Japan Anti-Tuberculosis Association
Wed(4)-P-44
Persistent and stability of circulating miRNAs in
postmortem blood sample
Wed(4)-P-48
Kornkiat Vongpaisarnsin,
Pattarakorn Saengkaeotkakul, Kwin Rasameephaisarn
Characterization of HTRA1 regulatory element
in Patients with Exudative Age-Related Macular
Degeneration.
Forensic Medicine, Faculty of Medicine, Chulalongkorn
University, Thailand
Daisuke Iejima, Mao Nakayama, Takeshi Iwata
National Institute of Sensory Organs, National Hospital
Organizaiton Tokyo Medical Center, Japan
Wed(4)-P-49
Genetic alteration in the Exon 3 of SEPTIN12
gene in infertile men referred to Royan Institute
Amir Parhizkar1,3, Parnaz Borjian Boroujeni2,
Maryam Shahhoseini2, Marjan Sabbaghian3,
Parichehreh Yaghmaei1
1
Department of Biology, Science and Research Branch,
Islamic Azad University, Tehran, Iran, 2Department of
Genetics, Reproductive Biomedicine Research Center, Royan
Institute for Reproductive Biomedicine, ACECR, Tehran,
Iran, 3Department of Andrology, Reproductive Biomedicine
Research Center, Royan Institute for Reproductive
Biomedicine, ACECR, Tehran, Iran
250
Matija Rijavec1, Ales Maver2, Keli Hocevar2, Mira Silar1,
Mitja Kosnik1, Borut Peterlin2, Peter Korosec1
1
University Clinic of Respiratory and Allergic Diseases Golnik,
Slovenia, 2Clinical Institute of Medical Genetics, Division of
Obstetrics and Gynaecology, University Medical Centre,
Ljubljana
1
Division of Genetics and Genomics, Harvard Medical School
and Children Hospital Boston, USA, 2Department of Pediatrics
and Neurology, Harvard Medical School, Boston, MA, USA,
3
Manton Center for Orphan Disease Research, 4Broad
Institute of Harvard and MIT, Cambridge, MA, USA, 5Division
of Infectious Diseases, Department of Medicine, Boston
Childrens Hospital, Boston, MA, 6Department of Molecular
Biology, Cell Biology and Biochemistry and Department
of Psychiatry and Human Behavior, Brown University,
Providence, RI, USA, 7Department of Neurobiology, Harvard
Medical School, Boston, MA, USA, 8Howard Hughes Medical
Institute, Boston Children's Hospital, Boston, MA, USA
Wed(4)-P-51
Expression profiling of long non-coding RNA
ecCEBPA in cell lines and gastric cancer tissues
Mojdeh Nasrollahzadeh Khakiani1,2,
Majdaddin Rezaei1,2, Modjtaba Emadi-Baygi3,4,
Parvaneh Nikpour1,2,5
1
genetics and molecular biology, Isfahan university of medical
science, Iran, 2Applied Physiology Research Center, Isfahan
University of Medical Sciences, Isfahan, Iran, 3Department of
Genetics, Faculty of Basic Sciences, Shahrekord University,
Shahrekord, Iran, 4Research Institute of Biotechnology,
Shahrekord University, Shahrekord, Iran, 5Child Growth
and Development Research Center, Research Institute for
Primordial Prevention of Non-communicable Disease, Isfahan
University of Medical Sciences, Isfahan, Iran
Wed(4)-P-55
Genome-wide landscape of insersions/deletions
with a functional impact on transcription factor
binding sites
Esben Eickhardt1,2,3, Thomas Damm Als1,2,3,
Manuel Mattheisen1,2,3, Jakob Grove1,2,3,4,
Anders Boerglum1,2,3,5, Francesco Lescai1,2,3
1
Regulation of human natural killer cells by
genetically variable and conserved receptor
systems - adenoviruses target a conserved
receptor-ligand axis for immune escape
Department of Biomedicine, Aarhus University, Denmark,
iSEQ - Centre for Integrative Sequencing, Aarhus C,
Denmark, 3iPSYCH – Lundbeck Foundation Initiative
for Integrative Psychiatric Research, Denmark, 4BiRC Bioinformatics Research Centre, Aarhus University, Aarhus C,
Denmark, 5Research Department P, Aarhus University Hospital
Risskov, Denmark
Makoto Yawata1,2, Jodhbir S Mehta3,4,5,
Nobuyo Yawata2,3,5
Wed(4)-P-56
Wed(4)-P-52
2
1
Pediatrics, National University of Singapore, Singapore,
Singapore Institute for Clinical Sciences, 3Duke-NUS
Graduate Medical School, 4Singapore National Eye Center,
5
Sinagpore Eye Research Institute
Genetics of gut microbiome composition in
healthy individuals
2
Alexandra Zhernakova1, Marc Jan Bonder1,
Alexander Kurilshikov1, Ettje Tigchelaar1, Lude Franke1,
Melanie Schirmer2, Tommi Vatanen2, Leo Joosten3,
Mihai Netea3, Ramnik Xavier2, Jingyuan Fu1,
Cisca Wijmenga1
Wed(4)-P-53
Methyleugenol DNA-Adducts in Human Liver
are Associated with SULT1A1 Copy Number
Variations
1
Department of Genetics, University of Groningen, University
Medical Center Groningen, Netherlands, 2The Broad Institute
of MIT and Harvard, Cambridge, MA, USA, 3Department
of Internal Medicine, Radboud University Medical Center,
Nijmegen, the Netherlands
Roman Tremmel1,2, Walter Meinl3, Kristin Herrmann3,
Kathrin Klein1,2, Hansruedi Glatt3, Ulrich M. Zanger1,2
1
Dr. Margarete Fischer-Bosch Institute of Clinical
Pharmacology, Stuttgart, Germany, 2University Tuebingen,
Tuebingen, Germany, 3German Institute of Human Nutrition
Potsdam-Rehbruecke, Nuthetal, Germany
251
Plenary Lecture
Klaus E Schmitz-Abe1,2,3,4, Ryan Doan1,2,
Sean Hill1,2, Guzman Sanchez-Schmitz2,5,
Eric M. Morrow6, Michael E. Greenberg7,
Timothy W. Yu1,2, Christopher A. Walsh1,2,8,
Kyriacos Markianos1,2
Homozygous deletions of non-coding DNA
sequences in Autism spectrum disorder
Workshops
Wed(4)-P-54
Global transcriptome profiling during acute
anaphylactic reaction reveals involvement of
complex networks of signaling, interactions and
recruitment of distinct immune cell types
Poster Session
Wed(4)-P-50
April 6 (Wed.)
Program
ICHG2016
Wed(4)-P-57
Wed(4)-P-61
Genetic control of ADCY3 and IRF4 expression
is critical for the Mycobacterium leprae triggered
immune response
Preliminary Investigations on the Putative Role
of the Antisense Transcripts DYT3 and INGX in
X-linked Dystonia Parkisonism
Jeremy Manry1,2, Yohann Nedelec3,4, Vinicius M Fava1,2,
Aurelie Cobat5, Guillaume Laval6,7, Marianna Orlova1,2,
Luis B Barreiro3,4,8, Erwin Schurr1,2
Jian Kenzo O. Leal, Reynaldo L. Garcia,
Joshua Reginald P. Malapit, Kenneth Anthony R. Roquid
National Institute of Molecular Biology and Biotechnology,
Philippines
1
Human Genetics, Program in Infectious Diseases and
Immunity in Global Health, The Research Institute of the
McGill University Health Centre, Montreal, Quebec, Canada,
2
McGill International TB Centre and Departments of Medicine
and Human Genetics, McGill University, Montreal, Quebec,
Canada, 3Sainte-Justine Hospital Research Centre, Montreal,
Quebec, Canada, 4Department of Biochemistry, Faculty of
Medicine, University of Montreal, Montreal, Quebec, Canada,
5
Laboratory of Human Genetics of Infectious Diseases, Necker
Branch, Institut National de la Sante et de la Recherche
Medicale, Paris, France, 6Institut Pasteur, Unit of Human
Evolutionary Genetics, Department of Genomes and Genetics,
Paris, France, 7Centre National de la Recherche Scientifique,
Paris, France, 8Department of Pediatrics, Faculty of Medicine,
University of Montreal, Montreal, Quebec, Canada
Wed(4)-P-62
The CRNDE lncRNA instigates distinct programs
of stemness, chemoresistance, proliferative
capacity and invasiveness
Jose Lorenzo M. Ferrer1, Tiffany T Ong1,
Robert Lorenz C Chua1,2, Reynaldo L Garcia1
1
Disease Molecular Biology and Epigenetics Laboratory,
University of the Philippines Diliman, Philippines, 2GeorgAugust-Universitat Gottingen International Max Planck
Research School
Wed(4)-P-58
Wed(4)-P-63
Rare variant discovery by deep whole-genome
sequencing of thousands Japanese individuals
and bioinformatics
S100PBP, TET3 and their shared microRNA
response elements (MREs) suggest existence
of a competitive endogenous RNA (ceRNA)
network
Masao Nagasaki1,2,3, Yosuke Kawai1,2,
Kaname Kojima1,2, Takahiro Mimori1,
Yumi Yamaguchi-Kabata1,2, Tomoko F Shibata1,2,
Kazuharu Misawa1,2, Yukuto Sato1,2, Inaho Danjoh1,2,
Sakae Saito1,2, Shin Ito1, Nobuo Fuse1,2,
Kengo Kinoshita1,3,4, Shigeo Kure1,2, Nobuo Yaegashi1,2,
Fumiki Katsuoka1,2, Jun Yasuda1,2,
Masayuki Yamamoto1,2,
ToMMo Japanese Reference Panel Project
Lech Havel O. Tizon, Robert Lorenz C. Chua,
Reynaldo L. Garcia
University of the Philippines - Diliman, Philippines
Wed(4)-P-64
The effect of high copy number of salivary
amylase gene on adiposity in Korean
1
Tohoku Medical Megabank Organization, Tohoku University,
Japan, 2Graduate School of Medicine, Tohoku University,
3
Graduate School of Information Sciences, Tohoku University,
4
Institute of Development, Aging and Cancer, Tohoku
University
Ho-Young Son1, Jin Ho Park2, Joohon Sung3,
Charles Lee5,6, BeLong Cho2, Jong-Il Kim1,4
1
Department of Biochemistry, Seoul National University
college of medicine, Korea, South, 2Department of Family
Medicine, Seoul National University College of Medicine,
3
Department of Epidemiology, School of Public Health, Seoul
National University, 4Genomic Medicine Institute, Medical
Research Center, Seoul National University, 5Department
of Life Sciences, Ewha Womans University, 6The Jackson
Laboratory for Genomic Medicine
Wed(4)-P-59
Coordinated Regulation of DNMT3B, PTEN, and
TET3 via a Competing Endogenous RNA (ceRNA)
Network
Kenneth Anthony R Roquid, Reynaldo L Garcia
University of the Philippines-Diliman, Philippines
Wed(4)-P-65
Ribosomal RNA deplection from Single Cell RNA
Sequencing
Wed(4)-P-60
Colin A Baron
High-throughput sequencing method of the KIR
haplotype for integrated HLA-KIR genotyping
approach for clinical applications
Qiagen, Germany
Kazuyoshi Hosomichi1, Toshio Yabe3, Takashi Shiina4,
Atsushi Tajima1, Ituro Inoue2
1
Department of Bioinformatics and Genomics, Graduate
School of Medical Sciences, Kanazawa University, Japan,
2
Division of Human Genetics, Department of Integrated
Genetics, National Institute of Genetics, 3Japanese Red
Cross Kanto-Koshinetsu Block Blood Center, 4Department of
Molecular Life Science, Division of Basic Medical Science and
Molecular Medicine, Tokai University School of Medicine
252
Michiel de Hoon1, Jay Shin1, Chung Chau Hon1,
Jordan Ramilowski1, Masayoshi Itoh1,
Takeya Kasukawa1, Naoto Kondo1, Harukazu Suzuki1,
Alistair Forrest2, Piero Carninci1
Junhui Yuan, Yujiro Higuchi, Akihiro Hashiguchi,
Akiko Yoshimura, Yuji Okamoto, Yusuke Sakiyama,
Tomonori Nakamura, Eiji Matsuura, Hiroshi Takashima
Kagoshima University, Japan
1
RIKEN Center for Life Science Technologies, Division of
Genomic Technologies, Yokohama, Japan, 2Harry Perkins
Institute of Medical Research, QEII Medical Centre and Centre
for Medical Research, the University of Western Australia,
Perth, Australia
Wed(4)-P-74
Novel homozygous MAGMAS/PAM16 mutation
in a patient with radiological features of
odontochondrodysplasia: first evidence for
phenotypic overlap?
Molecular Basis of Mendelian Disorders 2
Shahida Moosa1,2,4,5, Janine Altmueller1,3,
Holger Thiele3, Peter Nuernberg3,4,5, Virginia Fano6,
Gen Nishimura7, Bernd Wollnik1,2,4,5
1
Institute of Human Genetics, University of Cologne, Germany,
2
Institute of Human Genetics, University Medical Center
Goettingen, Goettingen, Germany, 3Cologne Center for
Genomics (CCG), University of Cologne, Germany, 4Center for
Molecular Medicine Cologne (CMMC), University of Cologne,
Cologne, Germany, 5Cologne Excellence Cluster on Cellular
Stress Responses in Aging-Associated Diseases (CECAD),
University of Cologne, Cologne, Germany, 6Department
of Paediatrics, Garrahan Pediatrics Hospital, Buenos
Aires, Argentina, 7Department of Pediatric Imaging, Tokyo
Metropolitan Children's Medical Center, Tokyo, Japan
Wed(4)-P-67
ROCK inhibition is essential during in vitro
neurogenesis and promotes phenotypic
rescue of human iPSCs-derived neurons with
Oligophrenin-1 loss of function
Ginevra Zanni1, Claudia Compagnucci1,
Sabina Barresi1, Stefania Petrini2, Enrico Bertini1
1
Depatment of Neurosciences, OPBG, Italy, 2Department of
Research Laboratories, OPBG
Wed(4)-P-68
Wed(4)-P-75
Epidermodysplasia verruciformis lacking TMC6
and TMC8 mutations
De novo KCNB1 mutations in infantile epilepsy
inhibit repetitive neuronal firing
Tokimasa Hida1, Junji Kato1, Masae Okura1,
Toshifumi Nomura2, Toshinari Miyauchi2,
Toshiharu Yamashita1
Hirotomo Saitsu1, Tenpei Akita2, Jun Tohyama3,
Hadassa Goldberg-Stern4, Yu Kobayashi3, Roni Cohen4,
Mitsuhiro Kato5, Chihiro Ohba1, Satoko Miyatake1,
Yoshinori Tsurusaki1, Mitsuko Nakashima1,
Noriko Miyake1, Atsuo Fukuda2, Naomichi Matsumoto1
1
Department of Dermatology, Sapporo Medical University
School of Medicine, Japan, 2Department of Dermatology,
Hokkaido University Graduate School of Medicine
1
Human Genetics, Yokohama City University, Japan,
Neurophysiology, Hamamatsu University School of Medicine,
3
Pediatrics, Epilepsy Center, Nishi-Niigata Chuo National
Hospital, 4Epilepsy Center, Schneider Children Medical Center,
5
Pediatrics, Yamagata University Faculty of Medicine
2
Wed(4)-P-69
Clinical and Genetic Characteristics of
Thai Patients with 46, XY Disorders of Sex
Development
Plenary Lecture
Phenotypic and Genetic Spectrum of Hereditary
Sensory and Autonomic Neuropathy in Japan
Wed(4)-P-72
Functional characterization of long non-coding
RNAs in FANTOM6
Workshops
Wed(4)-P-66
April 6 (Wed.)
Program
Advantage of next generation sequencing in
molecular diagnosis in DMD
-mutation screening with long preserved dried
umbilical cord and detection of mosaicismAi Unzaki1, Mariko Taniguchi-Ikeda1,2,
Yasuhiro Takeshima3, Tomoko Lee3, Hiroyuki Awano1,
Mariko Yagi4, Hiroki Kurahashi5, Ichiro Morioka1,
Tatsushi Toda2,6, Masafumi Matsuo7, Kazumoto Iijima1,
Mariko Taniguchi-Ikeda
1
Pediatrics, Chulalongkorn University, Thailand, 2Microbiology,
Mahidol University
Wed(4)-P-70
Two cases with miscarriages caused by
resistance to thyroid hormone
1
Pediatrics, Kobe University Graduate School of Medicine,
Japan, 2Division of Genetic Counseling, Kobe University
Hospital, 3Department of Pediatrics, Hyogo College of
Medicine, 4Nikoniko-house Medical Welfare Center, 5Division
of Molecular Genetics, Institute for Comprehensive Medical
Science, Fujita Health University, 6Department of Neurology/
Molecular Brain Science, Kobe University Graduate School of
Medicine, 7Department of Medical Rehabilitation, Kobegakuin
University
Katsuhiko Tsunekawa, Tomoyuki Aoki, Osamu Araki,
Takao Kimura, Makoto Nara, Hiroyuki Sumino,
Masami Murakami
Department of Clinical Laboratory Medicine, Gunma University
Graduate School of Medicine, Japan
253
Poster Session
Wed(4)-P-76
Chupong Ittiwut1, Jaturong Pratuangdejkul2,
Vichit Supornsilchai1, Sasipa Muensri1,
Yodporn Hiranras1, Taninee Sahakitrungruang1,
Suttipong Watcharasindhu1, Kanya Suhapeetiporn1,
Vorasuk Shotelersuk1
ICHG2016
Wed(4)-P-77
Wed(4)-P-80
Homozygous ADCY5 mutation causes
movement disorder with severe intellectual
disability
Gender effects on the severity of spinal
muscular atrophy (SMA) in 286 Japanese
patients diagnosed in 1996-2015
Nobuhiko Okamoto1, Fuyuki Miya2,3,
Tatsuhiko Tsunoda2,3, Mitsuhiro Kato4, Shinji Saitoh5,
Mami Yamasaki6, Yonehiro Kanemura7,8, Kenjiro Kosaki9
Ai Shima1, Mawaddah Ar Rochmah1,
Naoya Morisada1,2, Shinichiro Yanagisawa3,
Nur Imma Fatimah Harahap1, Toshio Saito4,
Aiko Umeno5, Kaori Kaneko5, Kayoko Saito5,
Kazumoto Iijima2, Hisahide Nishio1,2
1
Department of Medical Genetics, Osaka Medical Center
and Research Institute for Maternal and Child Health, Japan,
2
Department of Medical Science Mathematics, Medical
Research Institute, Tokyo Medical and Dental University,
3
Laboratory for Medical Science Mathematics, Center
for Integrative Medical Sciences, RIKEN, 4Department of
Pediatrics, Showa University School of Medicine, 5Department
of Pediatrics and Neonatology, Nagoya City University
Graduate School of Medical Sciences, 6Department of
Pediatric Neurosurgery, Takatsuki General Hospital, 7Division
of Regenerative Medicine, Institute for Clinical Research,
Osaka National Hospital, National Hospital Organization,
8
Department of Neurosurgery, Osaka National Hospital,
National Hospital Organization, 9Center for Medical Genetics,
Keio University School of Medicine
1
Department of Community Medicine and Social Healthcare
Sciecnce, Kobe University Graduate School of Medicine,
Japan, 2Department of Pediatrics, Kobe University Graduate
School of Medicine, 3Faculty of Pharmaceutical Sciences,
Himeji Dokkyo University, 4Department of Neurology, National
Hospital Organization Toneyama National Hospital, 5Institute
of Medical Genetics, Tokyo Women's Medical University
Wed(4)-P-81
Association study between CAG repeats of
PolyQ-related genes and SCA3/MJD
Hong Jiang1,2,3, Zhao Chen1, Caifa Zheng1, Zhe Long1,
Beisha Tang1,2,3, Chinese Clinical Research Cooperative
Group for Spinocerebellar Ataxias (CCRCG-SCA)
Wed(4)-P-78
A surgical case of chronic pancreatitis with
SPINK1p.N34S mutation
1
Department of Neurology, Xiangya Hospital, Central South
University, China, 2Key Laboratory of Hunan Province in
Neurodegenerative Disorders, Central South University, 3State
Key Laboratory of Medical Genetics, Central South University
Koji Tezuka, Wataru Kimura, Ichiro Hirai,
Shinji Okazaki, Shuichiro Sugawara,
Tsuyoshi Fukumoto, Toshihiro Watanabe
Wed(4)-P-82
First Department of Surgery (Department of
Gastroenterological, Breast, Thyroid and General Surgery),
Yamagata University Faculty of Medicine, Japan
Genetic analysis in West syndrome and
Ohtahara syndrome: a single center study
Jun Tohyama1,2, Yu Kobayashi1, Shinichi Magara1,
Kenichi Okazaki1, Takao Komatsubara1,
Noriyuki Akasaka1,3, Mitsuko Nakashima4,
Mitsuhiro Kato5, Hirotomo Saitsu4,
Naomichi Matsumoto4
Wed(4)-P-79
Next Generation Sequencing as a Clinical
Diagnostic Tool for Hereditary Spinocerebellar
Degeneration
1
Department of Child Neurology, Nishi-Niigata Chuo National
Hospital, Japan, 2Niigata University Medical and Dental
Hospital, 3Department of Paediatrics, Hamagumi Prefectural
Rehabilitation Centre, 4Department of Human Genetics,
Yokohama City University Graduate School of Medicine,
5
Department of Paediatrics, Show UniversitySchool of
Medicine
Katsuya Nakamura1, Kunihiro Yoshida2,
Tomoki Kosho1, Kyoko Takano3, Keiko Wakui3,
Shunichi Satoh4, Yoshiki Sekijima5, Hideo Makishita6,
Shinji Ohara7, Masumi Ishikawa1, Shu-ichi Ikeda5,
Yoshimitsu Fukushima1,3
1
Division of Clinical and Molecular genetics, Shinshu
University School of Medecine, Japan, 2Department of Brain
Disease Research, Shinshu University School of Medicine,
3
Department of Medical Genetics, Shinshu University
School of Medicine, 4Departmet of Neurology, Nagano Red
Cross Hospital, 5Department of Medicine (Neurology and
Rheumatology), Shinshu University School of Medicine,
6
Department of Neurology, Hokushin General Hospital,
7
Department of Neurogy, Matsumoto Medical Center
Wed(4)-P-83
Genetic analysis of HPRT1 gene in five patients
with HPRT deficiency
Atsuo Taniguchi1, Miyuki Toyono2, Ken Momosaki3,
Hiroaki Ueda4, Masae Ono5, Yasukazu Yamada6,
Noriko Nomura6, Hirotaka Kaneko1, Chieko Sekita1,
Hikota Osawa1, Mari Tochihara1, Naomi Ichikawa1,
Kayoko Saito7, Hisashi Yamanaka1
1
Institute of Rheumatology, Tokyo Women's Medical
University, Japan, 2Department of Pediatrics, Akita Prefectural
Center on Development and Disability, 3Department of
Pediatrics, Graduate School of Medical Sciences, Kumamoto
University, 4Department of Pediatrics, Osaka City General
Hospital, 5Department of Pediatrics, Tokyo Teishin Hospital,
6
Department of Genetics, Institute of Developmental
Research, Aichi Human Service Center, 7Institute of Medical
Genetics, Tokyo Women's Medical University
254
Wed(4)-P-88
Whole-exome sequencing combined with
homozygosity mapping reveals a novel TCAP
gene mutation in a consanguineous family
with LGMD2G initially diagnosed as heredity
inclusion body myopathy
Identification of DGUOK and MPV17 Mutations
in Patients with Hepatocerebral Mitochondrial
DNA Depletion Syndrome
Minji Kang1, Beom Hee Lee1,2, Kei Murayama3,
Sun Hee Heo1, Gu-Hwan Kim2, In Hee Choi2,
Han-Wook Yoo1,2
Qiji Liu1, Pengfei Lin2, Fei Gao1, Jiangxia Li1,
Xianli Bian1, Yaoqin Gong1, Chuanzhu Yan2
1
Asan Institute for Life Sciences, Asan medical center, Korea,
South, 2Medical Genetics Center, Asan Medical Center
Childrens Hospital,University of Ulsan College of Medicine,
3
Department of Metabolism, Chiba Childrens Hospital, Chiba,
Japan
1
Department of Medical Genetics, Shandong University,
China, 2Laboratory of Neuromuscular Disorders and
Department of Neurology, Qilu Hospital, Shandong University,
Jinan, Shandong, China;
Plenary Lecture
Wed(4)-P-84
April 6 (Wed.)
Program
Characterization of Japanese patients with
FHL1 myopathy
Toshio Saito1, Toshiaki Takahashi2, Satoshi Kuru3,
Mikiya Suzuki4, Tsuyoshi Matsumura5,
Harutoshi Fujimura5, Saburo Sakoda5
Yukiko K. Hayashi1, Ichizo Nishino2
1
Pathophysiology, Tokyo Medical University, Japan, 2National
Institute of Neuroscience, NCNP
1
Division of Child Neurology, Department of Neurology,
National Hospital Organization Toneyama National Hospital,
Japan, 2Department of Neurology, National Hospital
Organization National Sendai Nishitaga Hospital, 3Department
of Neurology, National Hospital Organization National Suzuka
Hospital, 4Department of Neurology, National Hospital
Organization Higashisaitama Hospital, 5Department of
Neurology, National Hospital Organization Toneyama National
Hospital
Wed(4)-P-90
Novel SACS gene mutations in Japanese
patients lacking spasticity
Mridulata Bohara1, Yuji Okamoto1, Akiko Yoshimura1,
Junhui Yuan1, Yujiro Higuchi1, Shiro Saito1,
Akihiro Hashiguchi1, Yuji Tashiro1, Eisuke Dohi3,
Masayuki Honda2, Taiji Sakamoto1, Hiroshi Takashima1
1
Neurology, Kagoshima University, Japan, 2Tokyo Metropolitan
Neurological Hospital, 3Hiroshima University
Wed(4)-P-86
Identification of novel mutations in C21ORF2
from Japanese patients with early-onset retinitis
pigmentosa
Wed(4)-P-91
A case of osteogenesis imperfecta caused by
PPIB mutation (First Japanese case)
Akiko Suga1, Mitsuhiro Kato2, Kazutoshi Yoshitake3,
Astushi Mizota4, Kazuho Ikeo5, Takeshi Iwata1
Junko Kanno1, Sayaka Kawashima1, Chisumi Sogi1,
Miki Kamimura1, Tetsuya Niihori3, Yoko Aoki3,
Shigeo Kure1, Ikuma Fujiwara2
1
Division of Molecular and Cellular Biology, National Institute of
Sensory Organs, Tokyo Medical Center, Japan, 2Department
of Pediatrics, Showa University School of Medicine, Tokyo,
Japan, 3Japan Software Management, Yokohama, Japan,
4
Department of Ophthalmology, Teikyo University School of
Medicine, Tokyo, Japan, 5CIB-DDBJ, National Institute of
Genetics, Mishima, Japan
1
Department of Pediatrics, Tohoku University school of
Medicine, Japan, 2Department of Pediatric Endcrinology
and Environmental Medicine, Tohoku University School of
Medicine, 3Department of Medical Genetics, Tohoku University
School of Medicine
Wed(4)-P-87
Workshops
Gender difference in effect of artificial ventilation
in patients with myotonic dystrophy
Wed(4)-P-89
Wed(4)-P-85
Development of SMN protein analysis in human
blood cells as a spinal muscular atrophy
biomarker
Hidenori Koyama1, Akio Miyoshi1, Yoshie Yoshikawa2,
Tomoko Hashimoto-Tamaoki2, Yukie Enomoto3,
Yasuo Miyoshi3, Manabu Kadoya1, Masafumi Kurajoh1,
Takuhito Shoji1, Yuji Moriwaki1, Tetsuya Yamamoto1,
Mitsuyoshi Namba1
Reiko Arakawa1, Noriko Otsuki1, Masayuki Arakawa2,
Kaori Kaneko1,3, Ryoko Aoki1, Kayoko Saito1,3
1
Institute of Medical Genetics, Tokyo Women's Medical
University, Japan, 2Institute of Microbial Chemistry, Microbial
Chemistry Research Foundation, 3Affiliated Field of Genetic
Medicine, Division of Biomedical Engineering and Science,
Graduate Course of Medicine, Graduate School of Tokyo
Women's Medical University
1
Division of Diabetes, Endocrinology and Metabolism,
Department of Internal Medicine, Hyogo College of Medicine,
Japan, 2Department of Genetics, Hyogo College of Medicine,
3
Division of Breast and Endocrine Surgery, Department of
Surgery, Hyogo College of Medicine
255
Poster Session
Wed(4)-P-92
Parathyroid hyperplasia induced by uniparental
disomy in a MEN1 patient with a frame-shift
mutation
ICHG2016
Wed(4)-P-93
Wed(4)-P-98
Detecting mutations in PRPH2 in 407 families
with non-syndromic high myopia by exome
sequencing
Panel-based next generation sequencing
identifies novel compound heterozygous
variants of BMP1 underlying osteogenesis
imperfecta
Bei Gao
Genetics Lab, Zhongshan ophthalmic center of Sun Yat-sen
University, China
Agnieszka Gach1, Iwona Pinkier1,
Aleksander Jamsheer2, Dominik Salachna1,
Karolina Antosik3, Lucjusz Jakubowski1
1
Department of Genetics, Polish Mother's Memorial Hospital
Research Institute, Lodz, Poland, 2Department of Medical
Genetics, Poznan University of Medical Sciences, Poznan,
Poland, 3Department of Clinical Genetics, Medical University
of Lodz, Lodz, Poland
Wed(4)-P-94
Clinical and genetic characteristics of the
Russian patients with Lynch syndrome
Alexei Tsukanov, Natalya Pospekhova, Vitaly Shubin,
Igor Sachkov, Dmitriy Semenov, Sergei Achkasov,
Vladimir Kashnikov, Yuri Shelygin
Wed(4)-P-99
State Scientific Centre of Coloproctology, Russia
SNCA p.Ala53Glu mutation in Parkinson's
disease
Wed(4)-P-95
Petra Pasanen1, Liisa Myllykangas2,
Minna Poyhonen3,4, Maija Siitonen1, Anna Raunio2,
Seppo Kaakkola5, Jukka Lyytinen5, Pentti J. Tienari5,6,
Juha O. Rinne7,8, Anders Paetau2
High prevalence of CDH23 mutations in patients
with a common clinical characteristics of early
childhood hearing loss and the genotypephenotype correlations
1
Department of Medical Biochemistry and Genetics, University
of Turku, Finland, 2Department of Pathology, University
of Helsinki and HUSLAB, Helsinki, Finland, 3Department
of Clinical Genetics, Helsinki University Central Hospital,
Helsinki, Finland, 4Department of Medical Genetics, University
of Helsinki, Helsinki, Finland, 5Department of Neurology,
University of Helsinki and University Central Hospital, Helsinki,
Finland, 6Molecular Neurology, Research Programs Unit,
Biomedicum, University of Helsinki, Helsinki, Finland, 7Turku
PET Centre, Turku University Hospital and University of Turku,
Turku, Finland, 8Division of Clinical Neurosciences, Turku
University Hospital and University of Turku, Turku, Finland
Tatsuo Matsunaga1, Kunio Mizutari1,2, Hideki Mutai1,
Kazunori Namba1, Atsuko Nakano3, Yukiko Arimoto3,
Sawako Masuda4, Noriko Morimoto5,
Hirokazu Sakamoto6, Kimitaka Kaga1
1
National Institute of Sensory Organs, National Tokyo Medical
Center, Japan, 2Department of Otolaryngology-Head and
Neck Surgery, National Defense Medical College, 3Division of
Otorhinolaryngology, Chiba Children's Hospital, 4Department
of Otorhinolaryngology, National Mie Hospital, 5Division
of Otolaryngology, National Center for Child Health and
Development, 6Department of Otorhinolaryngology, Hyogo
Prefectural Kobe Children's Hospital
Wed(4)-P-100
Genetic heterogeneity of muscular dystrophy in
Mali
Wed(4)-P-96
Novel missense and nonsense mutations in
the LRP5 gene in patients with osteoporosispseudoglioma syndrome
Guida Landoure1,2, Christopher Grunseich2,
Salimata Diallo3, Nouhoum Bocoum2,
Katherine G Meilleur4, Seybou H Diallo3, Kelian Chen2,
Simona Dimitriu5, Thomas Coulibaly1, Salimata Diarra1,
Koumba Bagayoko1, Dramane Coulibaly6,
Hamidou O Ba6, Youssoufa Maiga3, Cheick O Guinto1,
Moussa Traore1, Carsten Bonneman2,
Kenneth H Fischbeck2, H3Africa
Minna Pekkinen1, Giedre Grigelioniene2, Leyla Akin3,
Shah Krati4, Kadri Karaer5, Selim Kurtoglu3,
Alka V Ekbote4, Elif Sagsak6, Sumita Danda4,
Eva Astrom2, Outi Makitie1,2
1
Folkhalsan Institute of Genetics, Folkhalsan Research Center,
Finland, 2Karolinska Institutet and Karolinska University
Hospital, Stockholm, Sweden, 3Erciyes University, Faculty
of Medicine, Department of Pediatric Endocrinology, Turkey,
4
Department of Clinical Genetics, Christian Medical College
and Hospital Vellore, India, 5Intergen, Genetic Diagnosis
Research and Application Center, Ankara, Turkey, 6Dr.
Sami Ulus Children's Hospital, Department of Pediatric
Endocrinology, Ankara,Turkey
1
Service de Neurologie, Centre Hospitalier Universitaire du
Point G, Mali, 2Neurogenetics Branch, NINDS, NIH, Bethesda,
MD, 3Service de Neurologie, CHU de Gabriel Touré, Bamako,
Mali, 4Tissue Injury Branch, NINR, NIH, Bethesda, MD,
5
Centre for Nephrology, UCL, London, UK, 6Service de
Medecine, Hopital Mere-Enfant le Luxembourg, Bamako, Mali
Wed(4)-P-101
Mutational analysis of TBK1 in Taiwanese
patients with amyotrophic lateral sclerosis
Wed(4)-P-97
No parent-of-origin effects detected in a large
group of children with Williams syndrome
Yi-Chung Lee1,2, Pei-Chien Tsai1,2
1
Neurology, Taipei Veterans General Hospital, Taiwan,
Department of Neurology, National Yang-Ming University,
Taipei, Taiwan
2
Elaine Tam1, Ariel M Pani2, Colleen A Morris3,
Lucy R Osborne1, Carolyn B Mervis4
1
Medicine, University of Toronto, Canada, 2University of North
Carolina, Chapel Hill, NC, USA, 3University of Nevada School
of Medicine, Las Vegas, NV, USA, 4Psychological & Brain
Sciences, University of Louisville, KY, USA
256
Wed(4)-P-102
Wed(4)-P-107
Differentiated genetic landscape of familial and
sporadic amyotrophic lateral sclerosis
SMN1, SMN2 and hybrid SMN gene analysis in
spinal muscular atrophy using long-range PCR
followed by sequencing
Qing Liu1,2, Fang Liu2,3, Bo Cui1,2, Xianan Guo2,3,
Rongrong Wang2,3, Chaoxia Lu2,3, Mingsheng Liu1,2,
Xiaoguang Li1,2, Liying Cui1,2, Xue Zhang1,2,3
Wed(4)-P-108
Wed(4)-P-103
Spectrum and frequency of STK11 mutations of
Russian patients with Peutz-Jeghers syndrome
Ribosomal Dysfunction Leads to Erythropoiesis
Failure in a Zebrafish Model of DiamondBlackfan Anemia
Vitaly Shubin, Yury Shelygin, Alexey Tsukanov,
Igor Sachkov, Sergey Frolov, Vladimir Kashnikov,
Olga Maynovskaya, Natalia Pospekhova
Naoya Kenmochi , Tamayo Uechi , Yukari Nakajima ,
Maki Yoshihama1, Yutaka Suzuki2, Sumio Sugano2
1
State Scientific Centre of Coloproctology, Russia
1
Frontier Science Research Center, University of Miyazaki,
Japan, 2The University of Tokyo
Therapy for Genetic Disorders
Wed(4)-P-104
Molecular genetic and clinical characterization
of male Rett syndrome
Wed(4)-P-109
Hyun-Joo Lee, Yoon-Hee Ko, Cheol-Ho Lee,
Joon-Soo Lee, Heung-Dong Kim, Jin-Sung Lee
Dendrosomal Curcumin Nanoformulation is
Inducing Apoptosis and Up-Regulates Long
Non-Coding RNA CCAT2 in Human Breast
Cancer MCF-7 And T47D Cell Lines
Wed(4)-P-105
Aref Sobhkhizy1, Esmail Babaei1,
Mohammad Ali Hoseinpour Feizi1,2, Neda Jafari1,
Reyhaneh Ravanbakhsh Gavgani1
Pediatrics, Yonsei University College of Medicine,
Korea, South
Molecular genetic study of 80 patients with
ATR-X syndrome in Japan
1
Clinical Research Institute, Kanagawa Children's Medical
Center, Yokohama, Japan, 2Department of Medical Genetics,
Kanagawa Children's Medical Center, Yokohama, 3Osaka
Medical Center and Research Institute for Maternal and Child
Health, Osaka, 4Department of Medical Ethics and Medical
Genetics, Kyoto University Graduate School of Medicine,
Kyoto
Wed(4)-P-110
CHO-intermediated Chromosome Engineering
(CHOiCE) technique using CRIPSR/Cas9
Narumi Uno1,2, Katsuhiro Uno2, Shinya Komoto2,
Yasuhiro Kazuki1,2,3, Mitsuo Oshimura1
1
Chromosome Engineering Research Center, Tottori University,
Japan, 2Department of Biomedical Science, Institute of
Regenerative Medicine and Biofunction, Graduate School of
Medical Science, Tottori University, 3Department of Molecular
and Cellular Biology, Faculty of Medicine, Tottori University
Wed(4)-P-106
Clinicogenetic features of PLOSL (polycystic
lipomembranous osteodysplasia with sclerosing
leukoencephalopathy)
Wed(4)-P-111
Takao Kiriyama1, Ryogo Shobatake1, Kazuma Sugie1,
Satoshi Ueno1, Jun-ichi Satoh2
Hematopoietic stem cell transplantation for
adolescent and adult onset cerebral X-linked
adrenoleukodystrophy
1
Neurology, Nara Medical University, Japan, 2Bioinformatics
and Molecular Neuropathology, Meiji Pharmaceutical
University
Takashi Matsukawa1, Tomotaka Yamamoto1,
Takashi Toya2, Akihito Shinohara2, Yasuhito Nanya2,
Sachiko Seo2, Keiki Kumano2, Motoshi Ichikawa2,
Yuji Takahashi1, Hiroyuki Ishiura1, Jun Mitsui1,
Masaki Tanaka1, Jun Goto1, Mineo Kurokawa2,
Shoji Tsuji1
1
Department of Neurology, The University of Tokyo, Japan,
Department of Hematology and Oncology, The University of
Tokyo
2
257
Workshops
1
Natural Science faculty, University of Tabriz, Iran, 2East
Azarbaijan Technology and Science Park
Hiroko Shimbo1, Kenji Kurosawa2, Nobuhiko Okamoto3,
Takahito Wada4
Poster Session
1
1
Institute of Medical Genetics, Tokyo Women's Medical
University, Japan, 2Toppan Printing Co., Ltd., 3Riken Genesis
Co., Ltd., 4Department of Community Medicine and Social
Health Care, Kobe University Graduate School of Medicine,
Kobe, Japan, 5Department of Pediatrics, Kobe University
Graduate School of Medicine, Kobe, Japan
Department of Neurology and Laboratory of Clinical Genetics,
Peking Union Medical College Hospital, China, 2Neuroscience
Center, Chinese Academy of Medical Sciences & Peking
Union Medical College, 3McKusick-Zhang Center for Genetic
Medicine, Chinese Academy of Medical Sciences & Peking
Union Medical College
Plenary Lecture
Yuji Kubo1,2,3, Kayoko Saito1, Hisahide Nishio4,5
1
1
April 6 (Wed.)
Program
ICHG2016
Wed(4)-P-112
Wed(4)-P-117
The analysis of suppressive effects of citrus
peel ingredient on the abnormal protein
accumulation-related phenomena induced by
mutant proteins of glaucoma and amyotrophic
lateral sclerosis causative genes (OPTN and
TARDBP)
MOLECULAR MEASURING OF BCRABL1 TRANSCRIPTS ON INTERNATIONAL
REPORTING SCALE IN CHRONIC MYELOID
LEUKEMIA PATIENTS
1
Shariq Ahmed, Muhammad Nadeem,
Gul Sufaida, Kousar Naseem, Danish Zahid,
Saba Faraz, Tasneem Farzana, Uzma Zaidi,
Mehwish Taj, Munira Borhany, Sidra Maqsood,
Saad Ahmed, Tahir Sultan Shamsi
Masafumi Ohtsubo , Yoshihiro Hotta ,
Shinsei Minoshima1
2
1
Department of Photomedical Genomics, Hamamatsu
University School of Medicine, Japan, 2Department of
Ophthalmology, Hamamatsu University School of Medicine
Genomics, National Institute of Blood Diseases & Bone
Marrow Transplantation, Pakistan
Wed(4)-P-113
Wed(4)-P-118
Targeting Heat Shock Protein 90 with
Ganetespib for the Treatment of Lymphoma
rFSH monotherapy prior to hCG-rFSH
combination therapy is an effective new
treatment to achieving future fertility in
adolescent patients with congenital male
hypogonadotropic hypogonadism
Hanqing Liu1, Yongjin Lu1, Dongsheng Shang2,
Xiaofeng Shi3, Peishan Zhang1, Jingjing Zhao1,
Lingling Ruan1, Yanfang Wu2, Zhigang Tu2
1
School of Pharmacy, Jiangsu University, China, 2Institute
of Life Sciences, Jiangsu University, 3Affiliated Hospital of
Jiangsu University
Naoko Sato1,2, Akiko Hosokawa3, Sachiko Kitanaka1,
Toshiaki Tanaka2
1
Department of Pediatrics, Tokyo University, Japan, 2Tanaka
Growth Clinic, 3Hikari Clinic
Wed(4)-P-114
Wed(4)-P-119
Role of Fmr1 (Fragile X Mental Retardation
gene 1) mRNA level during neurodevelopment:
implication in the pathophysiology of FXTAS
(Fragile X-Associated Tremor/Ataxia Syndrome)
Therapeutic effects of recombinant adenoassociated virus-mediated muscle transduction
to express bone-targeted alkaline phosphatase
of lethal hypophosphatasia model mice
Bardoni Bardoni, Olfa Khalfallah, Samantha Zongaro
CNRS UMR7275, France
Aki Nakamura-Takahashi1, Koichi Miyake1,
Atsushi Watanabe1,2, Yukihiko Hirai1, Osamu Iijima1,
Noriko Miyake1, Kumi Adachi1,
Yuko Nitahara-Kasahara1, Hideaki Kinoshita3,
Taku Noguchi4, Shinichi Abe4, Takashi Shimada1,
Takashi Okada1
Wed(4)-P-115
Methionyl-tRNA Synthetase Promotes Reactive
Oxygen Species Accumulation by Producing
Homocysteine Thiolactone that Induces Lysine
Homocysteinylation
1
Department of Biochemistry and Molecular Biology, Nippon
Medical School, Japan, 2Division of Clinical Genetics, Nippon
Medical School Hospital, Tokyo, Japan, 3Department of
Dental Materials Science, Tokyo Dental College, Tokyo, Japan,
4
Department of Anatomy, Tokyo Dental College, Tokyo, Japan
Wei Xu1, Shimin Zhao1,2, Yan Lin1
1
Institutes of Biomedical Sciences, Fudan University, China,
School of Life Sciences, Fudan University
2
Wed(4)-P-120
Wed(4)-P-116
Dual-vector suicide gene therapy using retroviral
replicating vectors derived from amphotropic
murine leukemia virus and gibbon ape leukemia
virus
Generation of a non-cytotoxic herpes simplex
based vector for neural transduction
Yoshitaka Miyagawa1,2, Gianluca Verlengia3,
Michele Simonato3, Justus B. Cohen2,
Joseph C. Glorioso2
Shuji Kubo1, Yuki Mawatari-Furukawa1,
Misato Takagi-Kimura1, Christopher R Logg2,
Noriyuki Kasahara2,3,4
1
Department of Biochemistry and Molecular Biology, NIPPON
MEDICAL SCHOOL, Japan, 2Department of Microbiology
and Molecular Genetics, University of Pittsburgh, USA,
3
Department of Medical Sciences, University of Ferrara, Italy
1
Genetics, Hyogo College of Medicine, Japan, 2Medicine,
David Geffen School of Medicine, University of California, Los
Angeles, 3Medical & Molecular Pharmacology, David Geffen
School of Medicine, University of California, Los Angeles, 4Cell
Biology and Pathology, Miller School of Medicine, University
of Miami
258
Lentiviral Vector and Zinc Finger Nucrease
System mediated Gene Therapy for Krabbe
disease
Ken Inoue1, Heng Li1, Priyanthi R Mangalika1,
Ayako Nishizawa1, Yurika Numata1, Shoko Nakamura1,
Toshifumi Morimura1, Hideyuki Saya2, Yu-ichi Goto1
Hiroshi Kobayashi1,4, Yohta Shimada1,
Takashi Higuchi1, Sayoko Izuka1, Takeo Iwamoto2,
Takahiro Fukuda3, Masamichi Ariga1,4,
Yoshikatsu Eto1,4,5, Hiroyuki Ida1,4, Toya Ohashi1,4
1
Dept. of Mental Retardation and Birth Defect Research,
National Institute of Neuroscience, National Center of
Neurology and Psychiatry, Japan, 2Div Gene Regulation, Inst
Advanced Medical Research, Keio Univ, Tokyo, Japan
1
Research Center for Medical Sciences, The Jikei University
School of Medicine, Japan, 2Division of Biochemistry,
Research Core Facilities, The Jikei University School of
Medicine, 3Department of Neuropathol., Dept. of Neurosci.,
Res.Ctr.Med.Sci., The Jikei University School of Medicine,
4
Department of Pediatrics, The Jikei University School of
Medicine, 5Advanced Clinical Research Center, Institute of
Neurological Disorders
Wed(4)-P-122
Improved transduction of canine X-linked
muscular dystrophy with rAAV9-microdystrophin
by MSCs pre-treatment
Wed(4)-P-127
Hiromi Hayashita-Kinoh1,2, Yuko Nitahara-Kasahara1,2,
Hironori Okada1,2, Kiwamu Imagawa3,
Katsuhiko Tachibana3, Shin'ichi Takeda2,
Takashi Okada1
J-RARE: patient registry for the better life of rare
and intractable diseases' patients
Soichi Ogishima1,2, Kunihiro Nishimura2,3,
Masatoshi Iwasaki2, Shun Emoto2,4, Yukiko Nishimura2,4,
J-RARE patient organizations
1
Department of Biochemistry and Molecular Biology,
Nippon Medical School, Japan, 2Department of Molecular
Therapy, National Institute of Neuroscience, NCNP, 3JCR
Pharmaceuticals Co., Ltd.,
1
Tohoku Medical Megabank Organization, Tohoku University,
Japan, 2ASrid, 3Graduate School of Information Science and
Technology, University of Tokyo, 4Japan Patients Association
Wed(4)-P-123
Development of a safeguard system for an ideal
gene- and cell- therapy vector
Wed(4)-P-128
Androgens & Antioxidants Management
Facing Controversy &/or Unavailability of
Hematopoietic Stem Cell Transplantation:
Clinical & Hematologic Response in Fanconi
Anemia Egyptian Patients
Shinya Komoto1, Narumi Uno2,3, Katsuhiro Uno3,
Teruhiko Suzuki4, Masaharu Hiratuka1, Mituhiko Osaki5,
Yasuhiro Kazuki1,2,3, Mituo Oshimura2
1
Molecular and Cellular Biology, Tottori University, Japan,
Chromosome Engineering Research Center, Tottori
University, 3Department of Biomedical Science, Institute of
Regenerative Medicine and Biofunction, Graduate School
of Medical Science, Tottori University, 4Stem Cell Project,
Tokyo Metropolitan Institute of Medical Science, 5Division
of Pathological Biochemistry, Faculty of Medicine, Tottori
University
2
Plenary Lecture
Wed(4)-P-126
ER-Golgi transport may serve as a novel drug
target for Pelizaeus-Merzbacher disease caused
by PLP1 amino acid substitutions
Wed(4)-P-121
April 6 (Wed.)
Program
Aya Tarek, Ghada Yousef El-Kamah, Maha Eid
AAV8-mediated Expression of
N-acetylglucosamine-1-phosphate Transferase
Attenuates Bone Loss in a Mouse Model of
Mucolipidosis II
Wed(4)-P-124
CORRELATION LEVELS OF
ACTIVITIES OF DAILY LIVING AND
DISACCHARIDE CONCENTRATIONS IN
MUCOPOLYSACCHARIDOSES
Young Bae Sohn1, Ah-Ra Ko2, Su Jin Kim3,
Sung Won Park4, Malgorzata Przybylska5,
Nelson S. Yew5, Seng H. Cheng5, Jung-Sun Kim6,
Sung Yoon Cho7, Dong-Kyu Jin7
Adriana M Montano1,5, Katherine E. Foerster1,
Qi Gan1, Mary Campbell2, Shunji Tomatsu3, Tadao Orii4,
Yasuyuki Suzuki4
1
Medical Genetics, Ajou University Hospital, Korea, South,
2
Clinical Research Center, Samsung Biomedical Research
Center, 3Department of Pediatrics, Myongji Hospital,
4
Cheil General Hospital and Woman's Health Care Center,
5
Genzyme, a Sanofi Company, 6Department of Pathology,
Samsung Medical Center, 7Department of Pediatrics,
Samsung Medical Center
1
Pediatrics, Saint Louis University, USA, 2CWHM, Saint Louis
University, 3Alfred I Dupont Children Hospital, 4Gifu University,
5
Biochemistry and Molecular Biology, Saint Louis University
Wed(4)-P-125
Exacerbation in the IL-10 deficient dystrophic
mice and an anti-inflammatory strategy with
mesenchymal stromal cells
Yuko N Kasahara1,2, Hiromi H Kinoh1,2, Nana Tsumita2,
Chiaki Masuda1, Hironori Okada1,2, Shin'ichi Takeda2,
Takashi Okada1,2
1
Biochemistry and Molecular Biology, Nippon Medical School,
Japan, 2Molecular Therapy, National Institute of Neuroscience,
NCNP
259
Poster Session
Wed(4)-P-129
Workshops
Clinical Genetics, National Research Centre, Egypt
ICHG2016
Wed(4)-P-130
Wed(4)-P-133
Clinical features, molecular analysis and
outcome of ERT in Korean patients with
Mucopolysaccharidosis type VI
Detection of CYP2D6 polymorphism using
Luminex xTAG technology in Autism spectrum
disorder: CYP2D6 activity score and its
association with risperidone levels
Eun Kyung Cho1, Khunton Wichajarn2, A Ram Yang1,
Jinsup Kim1, Young Bae Sohn3, Su Jin Kim4,
Sung Won Park5, Sung Yoon Cho1, Beom Hee Lee6,
Jin-Ho Choi6, Han-Wook Yoo6, Dong Hwan Lee7,
Dong-Kyu Jin1
Natchaya Vanwong1, Apichaya Puangpetch1,2,
Yaowaluck Hongkaew1,2, Chonlaphat Sukasem1,2,
Montri Chamnanphon1,2, Nopadol Nuntamool1,2,4,
Nattawat Ngamsamut3, Ananya Sinrachatanan3,
Penkhae Limsila3
1
Department of Pediatrics, Samsung Medical Center,
Korea, South, 2Division of Medical Genetics, Department
of Pediatrics, Faculty of Medicine, Khon Kaen University,
3
Department of Medical Genetics, Ajou University School
of Medicine, 4Department of Pediatrics, Myongji Hospital,
Seonam University College of Medicine, 5Department
of Pediatrics, Jeil Hospital, Dankook University College
of Medicine, 6Department of Pediatrics, Asan Medical
Center Children's Hospital, University of Ulsan College of
Medicine, 7Department of Pediatrics, College of Medicine,
Soonchunhyang University
1
Division of Pharmacogenomics and Personalized Medicine,
Department of Pathology, Faculty of Medicine Ramathibodi
Hospital, Mahidol University, Bangkok, Thailand, Mahidol
University, Thailand, 2Laboratory for Pharmacogenomics,
Somdech Phra Debaratana Medical Center (SDMC),
Ramathibodi Hospital, Bangkok, Thailand, 3Yuwaprasart
Waithayopathum Child and Adolescent Psychiatric Hospital,
Department of Mental Health Services, Ministry of Public
Health, Thailand, 4Molecular Medicine, Faculty of Science,
Mahidol University, Bangkok, Thailand
Wed(4)-P-134
A polymorphism in CRAT is associated with HLADQB1*06:02 negative essential hypersomnia
Psychiatric Genetics, Neurogenetics and
Neurodegeneration
Taku Miyagawa1,2, Seik Soon Khor2, Hiromi Toyoda2,
Hiroto Kojima3, Takaomi Futagami3, Maria Yamasaki2,
Hiroh Saji3, Kazuo Mishima4, Yutaka Honda5,
Makoto Honda1,5, Katsushi Tokunaga2
Wed(4)-P-131
Polygenic Risk Score, Parental Socioeconomic
Status, Family History of Psychiatric Disorders,
and the Risk for Schizophrenia
1
Sleep Disorders Project, Department of Psychiatry and
Behavioral Sciences, Tokyo Metropolitan Institute of Medical
Science, Japan, 2Department of Human Genetics, Graduate
School of Medicine, The University of Tokyo, 3HLA Foundation
Laboratory, 4Department of Psychophysiology, National
Institute of Mental Health, National Center of Neurology and
Psychiatry, 5Japan Somnology Center, Neuropsychiatric
Research Institute
Esben Agerbo1,4,6, Patrick F Sullivan2,
Bjarni J Vilhalmsson3, Carsten B Pedersen1,4,6,
Ole Mors5, Anders D Børglum7, David Hougaard8,
Mads V Hollegaard8, Sandra Meier4,6,
Manuel Mattheisen7, Stephan Ripke9,10, Naomi Wray11,
Preben B Mortensen1,4,6
Wed(4)-P-135
1
Aarhus University, Centre for Integrated Register-Based
Research and National Centre for Register-Based Research,
Denmark, 2Department of Genetics, University of North
Carolina at Chapel Hill, NC, USA, 3BIRC-Bioinformatic
Research Centre, Aarhus University, Aarhus, Denmark,
4
Lundbeck Foundation Initiative for Integrative Psychiatric
Research, iPSYCH, Denmark, 5Department P, Aarhus
University Hospital, Risskov, Denmark, 6National Centre
for Register-Based Research, Aarhus University, Denmark,
7
Department of Biomedicine and Centre for Integrative
Sequencing, iSEQ, Aarhus University, Aarhus, Denmark,
8
Danish Center for Neonatal Screening, Statens Serum
Institut, Copenhagen, Denmark, 9Analytical and Translational
Genetics Unit, Massachusetts General Hospital, Boston,
MA, USA, 10Stanley Center for Psychiatric Research, Broad
Institute of MIT and Harvard, Cambridge, MA, USA, 11The
Queensland Brain Institute, The University of Queensland, St
Lucia, Australia
Copy number variations in pediatric obsessivecompulsive disorder: First high-resolution
chromosomal microarray analysis
Beatrice Oneda1, Edna Gruenblatt2,3,4, Juliane Ball2,
Julia Geissler6, Regina Reissmann1, Marcel Romanos6,
Anita Rauch Rauch1, Susanne Walitza2,3,5
1
Institute of Medical Genetics, University of Zurich,
Switzerland, 2University Clinic of Child and Adolescent
Psychiatry, University of Zurich, 3Neuroscience Center
Zurich, University of Zurich and ETH Zurich, 4Department of
Psychiatry, Psychosomatic and Psychotherapy, University
Hospital of Würzburg, Würzburg, Germany, 5Zurich Center for
Integrative Human Physiology, University of Zurich, 6Center
of Mental Health, Department of Child and Adolescent
Psychiatry, Psychosomatics and Psychotherapy, University
Hospital of Würzburg
Wed(4)-P-132
Wed(4)-P-136
Clinical phenotype-genotype correlation of
Alexander disease with GFAP mutation: Analysis
of 34 Japanese cases
A selective detection of lysophosphatidylcholine
in dried blood spot for diagnosis of
adrenoleukodystrophy by LC-MS/MS
Tomokatsu Yoshida1, Ikuko Mizuta1, Rei Yasuda1,
Kozo Saito1, Mao Mukai1, Masanori Nakagawa2,
Toshiki Mizuno1
Ryuichi Mashima1, Misa Tanaka1, Eri Sakai1,
Tadayuki Kumagai1, Motomichi Kosuga2,
Torayuki Okuyama1
1
Neurology, Kyoto Prefectural University of Medicine, Japan,
Neurology, North Medical Center, Kyoto Prefectural University
of Medicine
1
Department of Clinical Laboratory Medicine, National Center
for Child Health and Development, Japan, 2Division of Medical
Genetics, National Center for Child Health and Development
2
260
Genetic Variants in N-Methyl-D-Aspartate
Glutamate Receptor influence Emotion
Performance in Adolescents
Keiko Shimojima1,2, Akihisa Okumura3,4,
Masaharu Hayashi5, Takayuki Kondo6,7,
Haruhisa Inoue6,7, Toshiyuki Yamamoto1
Pei-Jung Lin1, Ting-Kuang Yeh2, Li-Ching Lee2,
Chun-Yen Chang2
1
National Taiwan University, Taiwan, 2National Taiwan Normal
University
1
Institute for Integrated Medical Sciences, Tokyo Women's
Medical University, Japan, 2Precursory Research for
Embryonic Science and Technology (PRESTO), Japan
Science and Technology Agency (JST), Kawaguchi, Japan,
3
Department of Pediatrics, Juntendo University, Tokyo,
Japan, 4Department of Pediatrics, Aichi Medical University,
Nagakute, Japan, 5Department of Brain Development and
Neural Regeneration, Tokyo Metropolitan Institute of Medical
Science, Tokyo, Japan, 6Center for iPS Cell Research and
Application (CiRA), Kyoto University, Kyoto, Japan, 7Core
Research for Evolutional Science and Technology (CREST),
Japan Science and Technology Agency (JST), Saitama, Japan
Wed(4)-P-142
Frequency and complexity of de novo structural
mutation in autism
William M Brandler, Danny Antaki,
Madhusudan Gujral, Jonathan Sebat
Psychiatry, University of California, San Diego, USA
Wed(4)-P-143
Aging and Alzheimer's disease connections
derived from dysregulation and comorbidity
networks suggest new counteractions and
treatments
Wed(4)-P-139
A Rare Clinical Condition Apert Syndrome
Associated with Autistic Spectrum Disorder
Yeliz Cengiz1, Mahmut C Ergoren2
Yi-Shian Peng1, Chia-Wei Tang1, Po-Jen Chang1,
Hung Chang1, Yi-Yun Peng1, Li-Ching Wu1,
Shu-Lin Kuo2, Hoong-Chien Lee1,3,4
1
Child and Adolescent Psychiatry, Near East University,
Medical Faculty Hospital, Cyprus, 2Department of Medical
Genetics, Medical Faculty, Near East University
1
Department of Biomedical Sciences and Engineering,
National Central University, Taiwan, 2Cathay Medical Research
Institute, Cathay General Hospital, Taipei, Taiwan, 3Department
of Physics, Chung Yuan Christian University, Zhongli, Taiwan,
4
Center for Dynamical Biomarkers and Translational Medicine,
National Central University, Zhongli, Taiwan
Wed(4)-P-140
Genome-wide association study identifies
SESTD1 as a novel risk gene for lithium
responsive bipolar disorder
Jie Song1, Sarah E. Bergen1,2, Arianna Di Florio3,
Robert Karlsson1, Alexander Charney4,
Douglas M. Ruderfer4, Eli A. Stahl4,
Kimberly D. Chambert2, Jennifer L. Moran2,
Katherine Gordon-Smith5, Liz Forty3, Elaine K. Green6,
Ian Jones3, Lisa Jones5, Edward M. Scolnick2,
Pamela Sklar4,7,8, Jordan W. Smoller9,
Paul Lichtenstein1, Christina Hultman1,
Nicholas Craddock3, Mikael Landén1,10,
The International Cohort Collection for Bipolar Disorder
(ICCBD)
Wed(4)-P-144
Plenary Lecture
Wed(4)-P-141
CHCHD2 is down-regulated in neuronal cells
differentiated from iPS cells derived from
patients with lissencephaly
Wed(4)-P-137
April 6 (Wed.)
Program
Yuji Sugawara1,2, Ayako Kashimada2,
Kengo Moriayam2, Shinpei Baba2, Kohsuke Imai2,
Ryuta Nishikomori3, Mizuho Motegi4, Yasuo Takeuci5,
Tomohiro Morio2
Workshops
Wed(4)-P-145
Poster Session
Aicardi-Goutieres and Singleton-Merten
overlapping phenotype due to IFIH1 mutation
1
Pediatrics, Soka Munincipal Hospital, Japan, 2Pediatrics,
Tokyo Medical and Dental University, 3Pediatrics, Graduate
School of Medicine, Kyoto University, 4Pediatric Dentistry,
Tokyo Medical and Dental Univesity, 5Periodontology, Tokyo
Medical and Dental University
1
Department of Medical Epidemiology and Biostatistics,
Karolinska Institutet, Sweden, 2Stanley Center for Psychiatric
Research, The Broad Institute of MIT and Harvard,
Cambridge, MA, USA, 3National Centre for Mental Health,
MRC Centre for Neuropsychiatric Genetics and Genomics,
Cardiff University, Cardiff, UK, 4Division of Psychiatric
Genomics, Department of Psychiatry, Icahn School of
Medicine at Mount Sinai, New York, NY, USA, 5Department
of Psychiatry, School of Clinical and Experimental Medicine,
University of Birmingham, Birmingham, UK, 6School of
Biomedical and Healthcare Sciences, Plymouth University
Peninsula Schools of Medicine and Dentistry, Plymouth, UK,
7
Institute for Multiscale Biology, Icahn School of Medicine at
Mount Sinai, New York, NY, USA, 8Friedman Brain Institute,
Icahn School of Medicine at Mount Sinai, New York, NY,
USA., 9Psychiatric and Neurodevelopmental Genetics Unit,
Department of Psychiatry, Massachusetts General Hospital,
Boston, MA, USA, 10Institute of Neuroscience and Physiology,
The Sahlgrenska Academy at Gothenburg University,
Gothenburg, Sweden
Milder progressive cerebellar atrophy caused by
biallelic SEPSECS mutations
Kazuhiro Iwama1,2, Masayuki Sasaki3,
Shinichi Hirabayashi4, Chihiro Ohba5, Emi Iwabuchi3,
Satoko Miyatake1, Mitsuko Nakashima1, Noriko Miyake1,
Shuichi Ito2, Hirotomo Saitsu1, Naomichi Matsumoto1
1
Human Genetics, Yokohama City University, Japan,
Pediatrics, Yokohama City University, 3Child Neurology,
National Center of Neurology and Psychiatry, 4Neurology,
Nagano Children's Hospital, 5Clinical Neurology and Stroke
Medicine, Yokohama City University
2
261
ICHG2016
Wed(4)-P-146
Wed(4)-P-150
Familial aggregation of patients with earlyand adult-onset schizophrenia and their
nonpsychotic relatives using neurological soft
signs
Genome-wide association study in a Japanese
sample identified candidate loci for HLADRB1*13:02-negative panic disorder
Mihoko Shimada1, Takeshi Otowa2, Taku Miyagawa1,3,
Seik-Soon Khor1, Yosuke Omae1, Licht Toyo-oka1,
Nagisa Sugaya4, Yoshiya Kawamura5,
Tadashi Umekage6, Akinori Miyashita7, Ryozo Kuwano7,
Hisanobu Kaiya8, Kiyoto Kasai9, Hisashi Tanii10,
Yuji Okazaki11, Katsushi Tokunaga1, Tsukasa Sasaki12
I-Ning Tsai1, Jin-Jia Lin2, Ming-Kun Lu3,
Sheng-Hsiang Lin1
1
National Cheng Kung University, Taiwan, 2Chimei Medical
Center, 3Jianan Mental Hospital
1
Department of Human Genetics, Graduate School of
Medicine, The University of Tokyo, Tokyo, Japan, 2Graduate
School of Clinical Psychology, Teikyo Heisei University
Major of Professional Clinical Psychology, Tokyo, Japan,
3
Department of Psychiatry and Behavioral Sciences, Tokyo
Metropolitan Institute of Medical Science, Tokyo, Japan,
4
Department of Epidemiology and Public Health, Graduate
School of Medicine, Yokohama City University, Kanagawa,
Japan, 5Department of Psychiatry, Shonan Kamakura General
Hospital, Kanagawa, Japan, 6Division for Environment,
Health and Safety, The University of Tokyo, Tokyo, Japan,
7
Department of Molecular Genetics, Center for Bioresources,
Brain Research Institute, Niigata University, Niigata, Japan,
8
Panic Disorder Research Center, Warakukai Med. Corp.,
Tokyo, Japan, 9Department of Neuropsychiatry, Graduate
School of Medicine, The University of Tokyo, Tokyo, Japan,
10
Department of Psychiatry, Institute of Medical Life Science,
Graduate School of Medicine, Mie University, Mie, Japan,
11
Tokyo Metropolitan Matsuzawa Hospital, Tokyo, Japan,
12
Department of Physical and Health Education, Graduate
School of Education, The University of Tokyo, Tokyo, Japan
Wed(4)-P-147
Nano-interventions for Alzheimer's disease.
Role of Dendrimers
Jerzy W. Leszek
Psychiatry, Wroclaw Medical University, Poland
Wed(4)-P-148
Familial spinocerebellar ataxia with sensory
neuropathy associated with compound
heterozygous intermediate CAG expansions in
MJD locus
Masahiro Kanai1, Yuji Takahashi1, Tomoya Taminato1,
Shoko Watanabe1, Masafumi Ogawa2, Miho Murata1
1
Department of Neurology, National Center of Neurology and
Psychiatry, Japan, 2Department of Neurology, Nagahama City
Hospital
Wed(4)-P-149
Wed(4)-P-151
Methadone Use in a Male With the FMRI
Premutation and FXTAS
1,2
Mutational analysis of causative genes
for autosomal recessive spinocerebellar
degeneration (SCD) to delineate molecular
epidemiology of early-onset SCD
Zukhrofi Muzar , Reymundo Lozano ,
Andrea Schneider2, Patrick E Adams2,
Sultana MH Faradz3, Flora Tassone2,
Randi J Hagerman2
2
Yuka Hama, Yuji Takahashi, Masahiro Kanai,
Shoko Watanabe, Miho Murata
1
Histology, Muhammadiyah University of North Sumatera,
Faculty of Medicine, Indonesia, 2University of California Davis
MIND Institute, USA, 3Diponegoro University, Indonesia
Department of Neurology, National Center Hospital, National
Center of Neurology and Psychiatry, Japan
Wed(4)-P-152
Mapping of novel homozygous loci for cognitive
dysfunction in consanguineous families
Muhammad Y Zahoor1,2, Shaheen N Khan2,
Sheikh Riazuddin3
1
Molecular Biology & Forensic Sciences Laboratory, Institute
of Biochemistry & Biotechnology, Faculty of Biosciences,
University of Veterinary & Animal Sciences, Pakistan, 2National
Centre of Excellence in Molecular Biology, University of the
Punjab, Lahore Pakistan, 3Allama Iqbal Medical College,
University of Health Sciences, Lahore Pakistan
Wed(4)-P-153
Retinitis pigmentosa is a common phenotype in
affected females with mutations in PRPS1
Prasit Phowthongkum1, Michael Weiss2,
Robin Bennett1, Michael Dorschner3, Suman Jayadev1,2
1
Medical Genetics, University of Washington, USA,
Neurology, University of Washington, 3Pathology, University
of Washington
2
262
Yutaka Negishi1, Fuyuki Miya2,3, Ayako Hattori1,
Naoki Ando1, Ikumi Hori1, Takao Togawa1,
Kohei Aoyama1, Kei Ohashi1, Shinobu Fukumura4,
Seiji Mizuno5, Ayako Umemura6, Yoko Kishimoto7,
Nobuhiko Okamoto8, Mitsuhiro Kato9,
Tatsuhiko Tsunoda2,3, Mami Yamasaki10,
Yonehiro Kanemura11,12, Kenjiro Kosaki13, Shinji Saitoh1
Toshiyuki Yamamoto1, Keiko Shimojima1,
Yuta Komiike2, Atsushi Ishii3, Shinpei Abe4,
Shintaro Yamashita5, Katsumi Imai6, Tetsuo Kubota7,
Tatsuya Furkasawa7, Tohru Okanishi8, Hideo Enoki8,
Takuya Tanabe9, Akira Saito10, Toru Furukawa1,
Toshiaki Shimizu4, Carol J Milliagan11, Steven Perou11,
Sarah E Heron12, Leanne M Dibbens12, Shinichi Hirose3,
Akihisa Okumura4
1
Department of Pediatrics and Neonatology, Nagoya City
University Graduate School of Medical Sciences, Japan,
2
Department of Medical Science Mathematics, Medical
Research Institute, Tokyo Medical and Dental University,
Tokyo, Japan, 3Laboratory for Medical Science Mathematics,
RIKEN Center for Integrative Medical Sciences, Yokohama,
Japan, 4Department of Pediatrics, Sapporo Medical University
School of Medicine, Sapporo, Japan, 5Department of
Pediatrics, Central Hospital, Aichi Human Service Center,
Aichi, Japan, 6Department of Pediatric Neurology, Central
Hospital, Aichi Human Service Center, Aichi, Japan,
7
Department of Pediatrics, Shimada Ryoiku Center Hachiouji,
Tokyo, Japan, 8Department of Medical Genetics, Osaka
Medical Center and Research Institute for Maternal and Child
Health, Osaka, Japan, 9Department of Pediatrics, Showa
University School of Medicine, Tokyo, Japan, 10Department
of Neurosurgery, Takatsuki General Hospital, Osaka, Japan,
11
Division of Regenerative Medicine, Institute for Clinical
Research, Osaka National Hospital, National Hospital
Organization, Osaka, Japan, 12Department of Neurosurgery,
Osaka National Hospital, National Hospital Organization,
Osaka, Japan, 13Center for Medical Genetics, Keio University
School of Medicine, Tokyo, Japan
1
Institute for Integrated Medical Sciences, Tokyo Women's
Medical University, Japan, 2Department of Hygiene and
Public Health 1, Tokyo Women's Medical University, Tokyo,
Japan, 3Department of Pediatrics, Fukuoka University Faculty
of Medicine, Fukuoka, Japan, 4Department of Pediatrics,
Juntendo University Faculty of Medicine, Tokyo, Japan,
5
Department of Pediatrics, Juntendo Nerima Hospital,
Tokyo, Japan, 6National Epilepsy Center, Shizuoka Institute
of Epilepsy and Neurological Disorders, Shizuoka, Japan,
7
Department of Pediatrics, Anjo Kosei Hospital, Anjo, Japan,
8
Department of Child Neurology, Seirei Hamamatsu General
Hospital, Hamamatsu, Japan, 9Tanabe Monbayashi Child
Clinic, Hirakata, Japan, 10StaGen Co., Ltd., Tokyo, Japan,
11
Florey Neuroscience Institute, Melbourne Brain Centre,
The University of Melbourne, Melbourne, Victoria, Australia,
12
Epilepsy Research Program, School of Pharmacy and
Medical Sciences, University of South Australia, Adelaide,
South Australia, Australia
Wed(4)-P-157
A "fault disease model" induced by a damage
in the regulatory axis ARX/KDM5C during
neurodevelopmental disorders
Wed(4)-P-155
Novel PLA2G6 mutations associated with an
exonic deletion due to non-allelic homologous
recombination in a patient with infantile
neuroaxonal dystrophy
Loredana Poeta1, Agnese Padula1, Augusto Ranieri1,
Cheryl Shoubridge2, Charles Schwartz3, Maria B Lioi4,
Hans van Bokhoven5, Jozef Gecz2, Maria G Miano1
1
Institute of Genetics and Biophysics Adriano Buzzati
Traverso, CNR, Naples, Italy, 2Department of Paediatrics,
University of Adelaide, Australia, 3Greenwood Genetic Center,
South Carolina, USA, 4University of Basilicata, Potenza,
Italy, 5Radboud University Nijmegen Medical Centre, The
Netherlands
Toshiyuki Yamamoto1, Keiko Shimojima1,
Takashi Shibata2, Mari Akiyama2, Makio Oka2,
Tomoyuki Akiyama2, Harumi Yoshinaga2,
Katsuhiro Kobayashi2
1
Tokyo Women's Medical University Institute for Integrated
Medical Sciences, Japan, 2Department of Child Neurology,
Okayama University Graduate School of Medicine, Dentistry
and Pharmaceutical Sciences and Okayama University
Hospital
Plenary Lecture
Single nucleotide variations in CLCN6 identified
in patients with benign partial epilepsies in
infancy and/or febrile seizures
Wed(4)-P-156
Combination of genetic and biochemical
analyses for the diagnosis of PI3K-AKT-mTOR
pathway associated megalencephaly syndromes
Workshops
Wed(4)-P-154
April 6 (Wed.)
Program
The immunogenetic basis of auditory
hallucinations in schizophrenia: Role for HLA-G
Ashwini Rajasekaran1,2, Manjula Subbanna1,2,
Venkataram Shivakumar2, Sunil V Kalmady2,
Deepthi Venugopal1,2, Anekal C Amaresha3,
Sri Mahavir Agarwal2, Janardhanan C Narayanaswamy2,
Ganesan Venkatasubramanian2, Monojit Debnath1
1
Human Genetics, National Institute of Mental Health
and Neurosciences, India, 2Translational Psychiatry Lab,
Dept. of Psychiatry, National Institute of Mental Health and
Neurosciences, 3Dept. of Psychiatric Social Work, National
Institute of Mental Health and Neurosciences
263
Poster Session
Wed(4)-P-158
ICHG2016
Wed(4)-P-159
Wed(4)-P-161
Progression and sex difference of multiple
sclerosis is associated with chondroitin sulfate
β-1,4-N-acetylgalactosaminyltransferase-1
polymorphism
Mutational and functional studies on HNRNPA1
mutations in familial amyotrophic lateral
sclerosis in the Japanese population
Hiroya Naruse1, Hiroyuki Ishiura1, Jun Mitsui1,
Hidetoshi Date1, Yuji Takahashi2, Akiko Ishii3,
Akira Tamaoka3, Koichiro Doi4, Jun Yoshimura4,
Shinichi Morishita4, Jun Goto5, Shoji Tsuji1
Kazumasa Saigoh1,2, Satoshi Yoshimura3,
Tomomi Izumikawa4, Toshiyasu Koike4,
Yasuharu Tabara5,6, Tetsuro Miki5, Katuichi Miyamoto2,
Makito Hirano2, Hiroshi Kitagawa4, Jun-Ichi Kira3,
Susumu Kusunoki2
1
The University of Tokyo, Japan, 2Department of Neurology,
National Center of Neurology and Psychiatry, 3Department
of Neurology, Faculty of Medicine, University of Tsukuba,
4
Department of Computational Biology and Medical Sciences,
Graduate School of Frontier Sciences, The University of
Tokyo, Tokyo, Japan, 5Department of Neurology, International
University of Health and Welfare Mita Hospital
1
Department of Life Science, Kinki University Faculty of
Science and Engineering, Japan, 2Department of Neurology,
Kinki University Faculty of Medicine, 3Department of
Neurology, Kyushu University Graduate School of Medicine,
4
Department of Biochemistry, Kobe Pharmaceutical University,
5
Department of Geriatric Medicine, Ehime University Graduate
School of Medicine, 6Center for Genomic Medicine, Kyoto
University Graduate School of Medicine
Wed(4)-P-162
Transcriptome responses to lithium in microglia
and peripheral blood monocyte
Wed(4)-P-160
Regional Heritability Analysis Indicates NETRIN1
Signaling Pathway is Associated with Major
Depressive Disorder
Yuta Takahashi1,2, Zhiqian Yu1,3, Mai Sakai1,
Hiroshi Komatsu4, Fumiaki Ito2, Hiroo Matsuoka2,
Hiroaki Tomita1,3
1
Department of Disaster Psychiatry, International Research
Institute of Disaster Science, Tohoku University, Japan,
2
Department of Psychiatry, Tohoku University Hospital,
3
Tohoku Medical Megabank Organization, 4Miyagi Psychiatric
Center
Yanni Zeng1, Pau Navarro2,
Ana Maria Fernandez-Pujals1, Lynsey Hall1,
Toni Kim Clarke1, Pippa Thomson3,4, Blair Smith5,6,
Lynne Hocking6,7, Sandosh Padmanabhan6,8,
Caroline Hayward6,9, Donald MacIntyre1, Naomi Wray10,
Ian Deary3,11,13, David Porteous3,4,12, Chris Haley2,13,
Andrew McIntosh1,3,12, Major Depressive Disorder
Working Group of the Psychiatric GWAS Consortium
1
Wed(4)-P-163
Involvement of lncRNAs in CNV deletions in
schizophrenia risk
2
Division of Psychiatry, University of Edinburgh, UK, MRC
Human Genetics Unit, Institute of Genetics and Molecular
Medicine, University of Edinburgh, Edinburgh, UK, 3Centre
for Cognitive Ageing and Cognitive Epidemiology, University
of Edinburgh, Edinburgh, United Kingdom, 4Medical Genetics
Section, Centre for Genomic and Experimental Medicine,
Institute of Genetics and Molecular Medicine, University
of Edinburgh, Edinburgh, 5Division of Population Health
Sciences, University of Dundee, Dundee, UK, 6Centre for
Genomic and Experimental Medicine, Institute of Genetics
and Molecular Medicine, University of Edinburgh, Edinburgh,
UK, 7Division of Applied Health Sciences, University of
Aberdeen, Aberdeen, UK, 8Institute of Cardiovascular and
Medical Sciences, University of Glasgow, Glasgow, UK,
9
MRC Human Genetics Unit, Institute of Genetics and
Molecular Medicine, University of Edinburgh, Edinburgh, UK,
10
Queensland Brain Institute, University of Queensland, St
Lucia, Queensland, Australia, 11Department of Psychology,
University of Edinburgh, UK, 12Generation Scotland, Centre
for Genomic and Experimental Medicine, Institute of Genetics
and Molecular Medicine, University of Edinburgh, Edinburgh,
UK, 13The Roslin Institute and Royal (Dick) School of Veterinary
Sciences, University of Edinburgh, UK
Qingtuan Meng1, Kangli Wang1, Chao Chen1,
Chunyu Liu1,2
1
The State Key Lab of Medical Genetics, Central South
University, Changsha, China, 2Department of Psychiatry,
University of Illinois at Chicago, IL, USA
Wed(4)-P-164
Variants in the PARL gene confer genetic
susceptibility to Alzheimer's disease in Han
Chinese
Rui Bi, Qun Xiang, Li-Li Kong, Yong-Gang Yao
Kunming Institute of Zoology, Chinese Academy of Sciences,
China
Wed(4)-P-165
C2822T in ARHGAP4 gene, a candidate disease
mutation in a family with mental retardation
Hui Guo1, Fuhua Liu2, Minglin Ou2, Linhua Lin1,
Jinghui Ren1, Yong Dai1
1
ShenZhen People's Hospital, China, 2GuiLin 181 Hospital
264
Takehiro Ueda1, Fumio Kanda1, Chikako Nishigori2,
Tatsushi Toda1
1
Pediatrics, Ibaraki Prefectural University of Health Sciences,
Japan, 2Pediatrics, Kitaibaraki Municipal General Hospital,
3
Medical Genetics, University of Tsukuba
1
Division of Neurology, Kobe University Graduate School of
Medicine, Japan, 2Division of Dermatology, Kobe University
Graduate School of Medicine
Wed(4)-P-167
Wed(4)-P-172
Search for a novel causative gene of hereditary
spastic paraplegia
Copy number variation analysis using wholeexome sequencing data for the diagnosis of
neurodegenerative diseases
Miho Kawabe1, Hiroyuki Ishiura1, Jun Mitsui1,
Atsushi Iwata1, Jun Yoshimura2, Koichiro Doi2,
Shinichi Morishita2, Jun Goto3, Shoji Tsuji1
Masaki Tanaka1, Hiroyuki Ishiura1, Jun Mitsui1,
Jun Yoshimura2, Koichiro Doi2, Shinichi Morishita2,
Kishin Koh3, Yuta Ichinose3, Yoshihisa Takiyama3,
Yujiro Higuchi4, Akihiro Hashiguchi4, Hiroshi Takashima4,
Shoji Tsuji1
1
Department of Neurology, Graduate School of Medicine, the
University of Tokyo, Japan, 2Department of Computational
Biology, Graduate School of Medicine, the University of Tokyo,
3
Department of Neurology, International University of Health
and Welfare
1
Department of Neurology, University of Tokyo, Graduate
School of Medicine, Japan, 2Department of Computational
Biology, Graduate School of Frontier Sciences, The University
of Tokyo, 3Department of Neurology, Interdisciplinary Graduate
School of Medicine and Engineering, University of Yamanashi,
4
Department of Neurology and Geriatrics, Kagoshima
University
Wed(4)-P-168
New results from the largest GWAS of Autism to
date
Jakob Grove, the iPSYCH-SSI-Broad/MGH
collaboration and Psychiatric Genomics Consortium
Autism Working Group
Wed(4)-P-173
Biomedicine, Aarhus University, Denmark
Japan Consortium of Ataxias (J-CAT): a Cloud
-based national registry for ataxias integrating
genetic diagnosis networks and prospective
natural history researches
Wed(4)-P-169
Investigating functional deficits of the
intellectual disability gene, IQSEC2 on dendritic
spine morphogenesis
Yuji Takahashi1, Kinya Ishikawa2, Jun-ichi Kira3,
Satoshi Kuwabara4, Ichiro Miyai5, Kenji Nakashima6,
Masatoyo Nishizawa7, Hidenao Sasaki8,
Makoto Sasaki9, Gen Sobue10, Hiroshi Takashima11,
Atsushi Takeda12, Yoshihisa Takiyama13, Shoji Tsuji14,
Yoshikazu Ugawa15, Kunihiro Yoshida16,
Koichi Wakabayashi17, Hidehiro Mizusawa1
Cheryl Shoubridge1,2, Shervi Lie1, Lachlan Jolly1,
Susan J Hinze1
1
Pediatrics, University of Adelaide, Australia, 2Robinson
Research Institute, University of Adelaide, Australia
1
Department of Neurology, National Center of Neurology and
Psychiatry, Japan, 2Department of Neurology and Neurological
Science, and Predictive and Preventive Medicine, Tokyo
Medical and Dental University, 3Department of Neurology,
Neurological Institute, Graduate School of Medical Sciences,
Kyushu University, 4Department of Neurology, Graduate
School of Medicine, Chiba University, 5Neurorehabilitation
Research Institute, Morinomiya Hospital, 6Division of
Neurology, Department of Brain and Neurosciences, Faculty
of Medicine, Tottori University, 7Department of Neurology,
Brain Research Institute, Niigata University, 8Department of
Neurology, Hokkaido University Graduate School of Medicine,
9
Division of Ultra-High Field MRI, Institute for Biomedical
Sciences, Iwate Medical University, 10Department of
Neurology, Nagoya University Graduate School of Medicine,
11
Department of Neurology and Geriatrics, Kagoshima
University, Graduate School of Medical and Dental Sciences,
12
Department of Neurology, Sendai Nishitaga National
Hospital, 13Department of Neurology, University of Yamanashi,
14
The University of Tokyo, 15Department of Neurology, School
of Medicine, Fukushima Medical University, 16Division of
Neurogenetics, Department of Brain Disease Research,
Shinshu University School of Medicine, 17Department of
Neuropathology, Institute of Brain Science, Hirosaki University
Graduate School of Medicine
Wed(4)-P-170
Rare variants in histone methyl transferase
genes involved in H3K9 methylation in Autism
Spectrum Disorders
Shabeesh Balan1, Yoshimi Iwayama1,
Motoko Maekawa1, Tomoko Toyota1, Shu Takagai2,
Tomoyasu Wakuda3, Yosuke Kameno3, Daisuke Kurita3,
Kohei Yamada2, Katsuaki Suzuki3, Masatsugu Tsujii2,4,
Norio Mori2,3, Yoichi Shinkai5,6, Takeo Yoshikawa1
1
Laboratory for Molecular Psychiatry, RIKEN Brain Science
Institute, Japan, 2Research Center for Child Mental
Development, Hamamatsu University School of Medicine,
Hamamatsu, Shizuoka, Japan, 3Department of Psychiatry,
Hamamatsu University School of Medicine, Hamamatsu,
Japan, 4Faculty of Sociology, Chukyo University, Chukyo,
Aichi, Japan, 5CREST (Core Research for Evolutionary
Science and Technology), Japan Science and Technology
Agency, Kawaguchi, Saitama, Japan, 6Cellular Memory
Laboratory, RIKEN, Wako, Saitama, Japan
265
Plenary Lecture
Junko Nakayama1, Nobuaki Iwasaki1, Kenzo Hamano2,
Tadao Arinami3, Emiko Noguchi3
Correlation between brain atrophy and
clinical severity in patients with xeroderma
pigmentosum group A harboring the founder
mutation in Japan
Workshops
Wed(4)-P-171
Mutation analysis of the myocyte enhancer
factor 2C gene (MEF2C) in Japanese patients
with febrile seizures
Poster Session
Wed(4)-P-166
April 6 (Wed.)
Program
ICHG2016
Wed(4)-P-174
Wed(4)-P-178
Functional Analysis of COQ2 V393A Variant
Associated with Multiple System Atrophy Based
on Measurement of Oxygen Consumption Rate
of Transformed Yeasts Carrying human COQ2
cDNAs
Improving Autism Spectrum Disorder (ASD)
specific diagnosis with Copy Number Variant
(CNV) profiling: results in a cohort of children
with neurodevelopmental problems under age
five
Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui,
Shoji Tsuji
Katarzyna Kwiatkowska1, Ines Conceicao1,2,3,
Catarina Rodrigues1, Isabel Picanco1, Isabel Marques4,
Joana Melo4, Susana Ferreira4, Catia Cafe5,
Joana Almeida5, Susana Mouga5,6,
Guiomar Oliveira5,6,7,8, Astrid M Vicente1,2,3
Neurology, The University of Tokyo, Japan
Wed(4)-P-175
1
Dep Health Promorion and Non Communicable Disease
Prevention, Instituto Nacional de Saude Doutor Ricardo
Jorge, Portugal, 2Biosytems and Integrative Sciences Institute,
3
Instituto Gulbenkian de Ciencia, 4Laboratorio de Citogenetica
e Genomica, Faculdade de Medicina da Universidade de
Coimbra, 5Unidade Neurodesenvolvimento e Autismo,
Centro de Desenvolvimento, Hospital Pediatrico (HP), Centro
Hospitalar e Universitario de Coimbra (CHUC), 6Instituto
Biomedico de Investigacao em Luz e Imagem, Faculdade
de Medicina da Universidade de Coimbra, 7Faculdade
de Medicina da Universidade de Coimbra, 8Centro de
Investigacao e Formacao Clinica do HP-CHUC
Common inversion polymorphisms under
selection are susceptibility factors for autism
and schizophrenia
Luis A Perez-Jurado1,2,3, Armand Gutierrez-Arumi1,2,3,
Alejandro Caceres4,5, Marcos Lopez-Sanchez1,2,4,
Ivon Cusco1,2,3, Juan R Gonzalez4,5
1
Universitat Pompeu Fabra, Spain, 2Hospital del Mar Research
Institute (IMIM), 3Centro de Investigacion Biomedica en Red
de Enfermedades Raras (CIBERER), 4Centre de Recerca en
Epidemiologia Ambiental (CREAL), 5Centro de Investigacion
Biomedica en Red de Epidemiologia y Salud Publica
(CIBERESP)
Wed(4)-P-179
Expression profile of candidate genes in children
and adolescents with major depressive disorder
Wed(4)-P-176
Manic State-Related Biomarkers Using CoExpressed Transcriptome Analyses
Vanessa K Ota1,2,3,4, Leticia M Spindola1,2,3,4,
Pedro M Pan1,3,4, Patricia N Moretti1,2,3,4,
Hugo Cogo-Moreira1,3,4, Marcos L Santoro2,3,4,
Carolina M Carvalho1,2,3,4, Ary Gadelha1,3,4,
Rodrigo B Mansur1,3,4, Mateus Levandowski4,6,7,
Giovanni Salum4,8, Gisele G Manfro4,8, Jair J Mari2,3,4,
Helena Brentani4,5, Rodrigo Grassi-Oliveira4,6,7,
Elisa Brietzke1,3,4, Euripedes C Miguel4,5,
Luis A Rohde4,8, João R Sato4,9, Rodrigo A Bressan1,3,4,
Sintia I Belangero1,2,3,4
Ya-Chin Lee1, Ming-Chyi Huang2,3, Wen-Ying Chen2,
Yu-Lin Chao4,5, Ming-Hsien Hsieh6, Po-Hsiu Kuo1,7
1
College of Public Health, National Taiwan University,
Institue of Epidemiology and Preventive Medicine, Taiwan,
2
Department of Psychiatry, Taipei City Psychiatric Center,
Taipei City Hospital, Taipei, Taiwan, 3Department of Psychiatry,
School of Medicine, Taipei Medical University, Taipei, Taiwan,
4
Insititute of Medical Science, Tzu Chi University, Hualien,
Taiwan, 5Department of Psychiatry, Buddhist Tzu Chi General
Hospital, Hualien, Taiwan, 6Department of Psychiatry, National
Taiwan University Hosipital, Taipei, Taiwan, 7Research Center
for Genes, Environment and Human Health, National Taiwan
University, Taipei, Taiwan
1
Psychiatry, Universidade Federal de Sao Paulo, Brazil,
Genetics Division, Universidade Federal de Sao Paulo,
3
Interdisciplinary Laboratory of Clinical Neurosciences,
Universidade Federal de Sao Paulo, 4National Institute of
Developmental Psychiatry for Children and Adolescents
(INPD), 5Department & Institute of Psychiatry, University of
Sao Paulo Medical School, 6Post-Graduation Program in
Psychology, Pontifical Catholic University of Rio Grande do
Sul, 7Developmental Cognitive Neuroscience Research Group
(GNCD), Pontifical Catholic University of Rio Grande do Sul,
8
Department of Psychiatry, Federal University of Rio Grande
do Sul, 9Center of Mathematics, Computation and Cognition,
Universidade Federal do ABC
2
Wed(4)-P-177
Genetic determinants of multiple sclerosis
susceptibility in populations with non-European
ancestry
Jacob L. McCauley1,2, Ashley H. Beecham1,2,
Noriko Isobe3, Clara P. Manrique1, Brett T. Lund4,
Alex Levy4, David V. Conti5, Gary W. Beecham1,2,
Philip L. De Jager6, Silvia R. Delgado7,
Jorge R. Oksenberg3, Lilyana Amezcua4
Wed(4)-P-181
Oligogenic model in Amyotrophic Lateral
Sclerosis?
1
John P. Hussman Institute for Human Genomics, University
of Miami, USA, 2Dr. John T. Macdonald Department of
Human Genetics, Miller School of Medicine, University of
Miami, Miami FL, USA, 3Department of Neurology, University
of California at San Francisco, San Francisco CA, USA,
4
Department of Neurology, Keck School of Medicine,
University of Southern California, Los Angeles CA, USA,
5
Department of Preventative Medicine, Keck School of
Medicine, University of Southern California, Los Angeles CA,
USA, 6Program in Translational NeuroPsychiatric Genomics,
Institute for the Neurosciences, Departments of Neurology
and Psychiatry, Brigham & Women's Hospital, Boston MA,
USA, 7Multiple Sclerosis Division, Department of Neurology,
Miller School of Medicine, University of Miami, Miami FL, USA
Claire S Leblond1,2, Kevin Mouzat3, Patrick Vourc'h4,
Sandra B Laurent2,7, Dan Spiegelman2,7,
Serge Lumbroso3, Philippe Corcia4,5, William Camu6,
Patrick A Dion2,7, Guy A Rouleau2,7
1
Human Genetics Department, McGill University, Canada,
Montreal Neurological Institute and Hospital, Mc Gill
University, Montreal Qc Canada, 3Department of Genetics,
CHU Nimes, Nimes, France, 4UMR INSERM U930, Université
François-Rabelais, Tours, France, 5Centre SLA, CHRU of
Tours, Tours, France, 6ALS Center, CHU Gui de Chauliac
and INSERM U1051, Université Montpellier 1, Montpellier,
France, 7Department of Neurology and Neurosurgery, Mc Gill
University, Montreal Qc Canada
2
266
The effects of tooth loss and APOE ε4 allele on
mild memory impairment in the Fujiwara-kyo
study of Japan
Haruo Shimazaki, Tohru Matsuura
Nozomi Okamoto1, Masayuki Morikawa2,3,
Shin Takasawa4, Norio Kurumatani1
Neurology, Jichi Medical University, Japan
1
Community Health and Epidemiology, Nara Medical
University, Japan, 2Mie Prefectural Mental Care Center,
3
Psychiatry, Nara Medical University, 4Department of
Biochemistry, Nara Medical University
Wed(4)-P-183
The association between GWAS peak on 6p21.322.1 and cognitive impairment in trio-families
with schizophrenia
Wed(4)-P-187
Polygenic risk for schizophrenia and
neurocognitive performance in patients with
schizophrenia
Wan-Jung Lui1, Po-Chang Hsiao1, Ling-Ling Yeh2,
Chih-Min Liu3, Chen-Chung Liu3, Tzung-Jeng Hwang3,
Ming H. Hsieh3, Yi-Ling Chien3, Yi-Ting Lin3,
Sharon D. Chandler4, Stephen J. Glatt5, Nan Laird6,
Stephen V. Faraone5, Ming T. Tsuang4, Hai-Gwo Hwu1,3,7,
Wei J. Chen1,7,8,9, PsychChip Working Group
Shi-Heng Wang1, Po-Chang Hsiao1, Ling-Ling Yeh2,
Chih-Min Liu3, Chen-Chung Liu3, Tzung-Jeng Hwang3,
Ming H. Hsieh3, Yi-Ling Chien3, Yi-Ting Lin3,
Sharon D. Chandler4, Stephen V. Faraone5, Nan Laird6,
Stephen J. Glatt5, Ming T. Tsuang4, Hai-Gwo Hwu3,
Wei J. Chen1
1
Epidemiology, Institute of Epidemiology and Preventive
Medicine, College of Public Health, National Taiwan University,
Taiwan, 2Department of Healthcare Administration, College
of Health Science, Asia University, Taichung, Taiwan,
3
Department of Psychiatry, College of Medicine and National
Taiwan University Hospital, National Taiwan University, Taipei,
Taiwan, 4Center for Behavioral Genomics, Department of
Psychiatry, University of California San Diego, La Jolla,
California, USA, 5Departments of Psychiatry and Behavioral
Sciences and Neuroscience and Physiology, Medical Genetics
Research Center, SUNY Upstate Medical University, Syracuse,
New York, USA, 6Department of Biostatistics, Harvard
University, Boston, Massachusetts, USA, 7Institute of Brain
and Mind Sciences, College of Medicine, National Taiwan
University, Taipei, Taiwan, 8Department of Public Health,
College of Public Health, National Taiwan University, Taipei,
Taiwan, 9Genetic Epidemiology Core Laboratory, Division of
Genomic Medicine, Research Center for Medical Excellence,
National Taiwan University, Taipei, Taiwan
1
Institute of Epidemiology and Preventive Medicine, College
of Public Health, National Taiwan University, Taiwan,
2
Department of Healthcare Administration, College of
Health Science, Asia University, 3Department of Psychiatry,
College of Medicine and National Taiwan University Hospital,
National Taiwan University, 4Center for Behavioral Genomics,
Department of Psychiatry & Institute for Genomic Medicine,
University of California San Diego, 5Departments of Psychiatry
and Behavioral Sciences and Neuroscience and Physiology,
Medical Genetics Research Center, SUNY Upstate Medical
University, 6Department of Biostatistics, Harvard University
Wed(4)-P-188
Plenary Lecture
Wed(4)-P-186
Novel compound heterozygous mutations of
SPG11 gene in sporadic spastic paraplegia with
thin corpus callosum
Wed(4)-P-182
April 6 (Wed.)
Program
Mai Sakai1, Hikaru Takeuchi3, Yoshie Kikuchi2,
Chiaki Ono2, Zhiqian Yu1,2,5, Yasuyuki Taki4,5,
Hiroaki Tomita1,2,5
Clinical Utility of Next Generation Sequencing
for Undiagnosed Genetic Disorders
1
Department of Clinical Genetics, Department of Pediatrics,
Yonsei University, College of Medicine, Korea, South,
2
Department of Pediatrics, Division of Pediatric Neurology,
Pediatric Epilepsy Clinics, Yonsei University, College of
Medicine
1
Disaster Psychiatry, Graduate School of Medicine, Tohoku
University, Japan, 2Disaster Psychiatry, International
Research Institute of Disaster Science, Tohoku University,
3
Developmental Cognitive Neuroscience, Institute of
Development, Aging and Cancer, Tohoku University, 4Nuclear
Medicine and Radiology, Institute of Development, Aging
and Cancer, Tohoku University, 5Tohoku Medical Megabank
Organization,Tohoku University
Wed(4)-P-185
Wed(4)-P-189
Novel rare variations of oxytocin receptor (OXTR)
gene in autism spectrum disorder individuals
Novel rare variations of oxytocin receptor (OXTR)
gene in autism spectrum disorder individuals
MAOA as a genetic modifier of psychiatric
manifestations in Huntington disease
Younhee Ko1, Hyun-Joo Lee1, Heung-Dong Kim2,
Joon-Soo Lee2, Cheolho Lee1, JinSung Lee1
Mahmoud A Pouladi1, Jolene Ooi1, Bernice Sim1,
Jonasz J Weber2, Silke Metzger2, Marie Loh1,
Huu P Nguyen2
Xiaoxi Liu1, Katshushi Tokunaga1, Tsukasa Sasaki2
1
Translational Lab in Genetic Medicine, Department of
Medicine, ASTAR and National University of Singapore,
Singapore, 2Institute of Medical Genetics and Applied
Genomics, University of Tuebingen, Tuebingen, Germany
1
Department of Human Genetics, University of Tokyo, Japan,
Department of Physical and Health Education, Graduate
School of Education, The University of Tokyo
2
267
Poster Session
Wed(4)-P-184
Workshops
Effect of CX3CR1 polymorphisms on the
structure and function in the human brain
ICHG2016
Wed(4)-P-190
Pharmacogenetics
Identification of SPG11/KIAA1840 mutations in
patients with an autosomal recessive form of
Charcot-Marie-Tooth disease type 2
Wed(4)-P-193
A TALE OF GENETIC VARIATION IN THE HUMAN
SLC22A1 GENE ENCODING OCT1 AMONG TYPE
2 DIABETES MELLITUS POPULATION GROUPS
OF WEST BENGAL, INDIA
Celeste Montecchiani1, Lucia Pedace1,
Temistocle Lo Giudice1, Antonella Casella1,
Marzia Mearini1, Fabrizio Gaudiello1, Josè L Pedroso3,
Chiara Terracciano2, Carlo Caltagirone2,4,
Roberto Massa2, Peter H St George-Hyslop5,6,7,
Orlando GP Barsottini3, Toshitaka Kawarai8,
Antonio Orlacchio1,2
Dipanshu Sur
Dept. of Zoology, University of Calcutta, India
1
Laboratorio di Neurogenetica, IRCCS Santa Lucia, Rome,
Italy, 2Dipartimento di Medicina dei Sistemi, Università di
Roma Tor Vergata, Rome, Italy, 3Department of Neurology,
Universidade Federal de São Paulo, Brazil, 4Laboratorio di
Neurologia Clinica e Comportamentale, IRCCS Santa Lucia,
Rome, Italy, 5Centre for Research in Neurodegenerative
Diseases, University of Toronto, Ontario, Canada,
6
Department of Medicine, University of Toronto, Ontario,
Canada, 7Department of Clinical Neurosciences, University
of Cambridge, Cambridge, United Kingdom, 8Department
of Clinical Neuroscience, Institute of Biomedical Sciences,
Tokushima University Graduate School, Tokushima, Japan
Wed(4)-P-194
Correlation of UGT1A1*28 and *6 polymorphisms
with irinotecan-induced neutropenia in Thai
colorectal cancer patients
Chalirmporn Atasilp1,2, Pichai Chansriwong3,
Ekapob Sirachainan3, Thanyanan Reungwetwattana3,
Montri Chamnanphon1,2, Apichaya Puangpetch1,2,
Sansanee Wongwaisayawan4, Chonlaphat Sukasem1,2
1
Division of Pharmacogenomics and Personalized Medicine,
Hospital, Mahidol University, Thailand, 2Laboratory for
Pharmacogenomics, Clinical Pathology, Somdetch Phra
Debharatana Medical Centre, Ramathibodi Hospital, 3Division
of Medical Oncology, Department of Medicine, Faculty of
Medicine Ramathibodi Hospital, Mahidol University, 4Division
of Anatomical Pathology, Department of Pathology, Faculty of
Medicine Ramathibodi Hospital, Mahidol University
Wed(4)-P-191
A clinico-genetic study in a large cohort of
patients with herediatry spastic paraplegia type
4 (SPG4)
Lucia Pedace1, Marzia Mearini1, Antonella Casella1,
Celeste Montecchiani1, Fabrizio Gaudiello1,
Marialuisa Miele1, Roberto Massa2, Carlo Caltagirone2,3,
Renato P Munhoz4, Josè L Pedroso5,
Orlando GP Barsottini5, Toshitaka Kawarai6,
Antonio Orlacchio1,2
Wed(4)-P-195
Impact of serotonin receptor 1A haplotypes
on risperidone-induced weight gain in
schizophrenia patients
1
Laboratorio di Neurogenetica, IRCCS Santa Lucia, Rome,
Italy, 2Dipartimento di Medicina dei Sistemi, Università di
Roma Tor Vergata, Rome, Italy, 3Laboratorio di Neurologia
Clinica e Comportamentale, IRCCS Santa Lucia, Rome, Italy,
4
Movement Disorders Centre, Toronto Western Hospital,
University of Toronto, ON, Canada, 5Department of Neurology,
Universidade Federal de São Paulo, Brazil, 6Department
of Clinical Neuroscience, Institute of Biomedical Sciences,
Tokushima University Graduate School, Tokushima, Japan
Ying-Tzu Chang1, Chih-Yu Chen1, Yu-Ning Teng1,
Ying-Chieh Chen1, Jia-Lian Yang1, Wei-Chieh Liao1,
Chin-Chuan Hung1,2, Hsien-Yuan Lane3,4
1
Department of Pharmacy, College of Pharmacy, China
Medical University, Taiwan, 2Department of Pharmacy, China
Medical University Hospital, 3Department of Psychiatry, China
Medical University Hospital, Taichung, Taiwan, 4Institute of
Clinical Medical Science, College of Medicine, China Medical
University, Taichung, Taiwan
Wed(4)-P-192
Analysis of retrotranposition in
neurodegenerative disorders
Wed(4)-P-196
Effects of Hyptis suaveolens and Boerhavia
diffusa herbal extracts on recombinant human
CYP enzyme activity and cell cycle regulation
Giovanni Pascarella1, A. Busch1, G. Gustincich2, P.
Carninci1
1
RIKEN Center for Life Science Technologies, Division of
Genomic Technologies, Life Science Accelerator Technology
Group, Transcriptome Technology Team, Yokohama, Japan,
2
Area of Neuroscience, International School for Advanced
Studies, Trieste, Italy
Nicholas E Thomford, Kevin Dzobo,
Ambroise Wonkam, Collet Dandara
Pathology, Division of Human Genetics, University of Cape
Town, Ghana
268
Wed(4)-P-201
The associations between DRD2 and ANKK1
genetic polymorphisms and response to
risperidone in patients with schizophrenia
Methadone Maintenance Treatment Combine
use of Amphetamine is Associated with APBB2
Genetic Variants
Ying-Chieh Chen1, Chih-Yu Chen1, Yu-Ning Teng1,
Ying-Tzu Chang1, Jia-Lian Yang1, Wei-Chieh Liao1,
Chia-Chen Liu1, Chiu-Ping Fang1, Sheng-Wen Liu1,
Hsiang-Wei Kuo1, Sheng-Chang Wang1, Ing-Kang Ho2,3,
Yu-Li Liu1
1
Medical University, Taichung, Taiwan, 2Department of
Pharmacy, China Medical University Hospital, Taichung,
Taiwan, 3Department of Psychiatry, China Medical University
Hospital, Taichung, Taiwan, 4Institute of Clinical Medical
Science, College of Medicine, China Medical University,
Taichung, Taiwan
1
Center for Neuropsychiatric Research, National Health
Research Institutes, Miaoli, Taiwan, 2Center for Drug Abuse
and Addiction, China Medical University Hospital, Taichung,
Taiwan, 3Graduate Institute of Clinical Medical Science, China
Medical University, Taichung, Taiwan
1
1
Center for Neuropsychiatric Research, National Health
Research Institutes, Taiwan, 2Graduate Institute of Clinical
Medical Science, China Medical University
1
Medical University, Taiwan, 2Department of Pharmacy, China
Medical University Hospital, 3Department of Psychiatry, China
Medical University Hospital, Taichung, Taiwan, 4 Institute of
Clinical Medical Science, College of Medicine, China Medical
University, Taichung, Taiwan
Wed(4)-P-203
The frequencies of pharmacogenomically
relevant rare variants in the Lithuanian
population
Wed(4)-P-199
Vaidutis Kucinskas,
Aidas Pranculis, Tautvydas Rancelis,
Laima Ambrozaityte, Ingrida Uktveryte,
Ingrida Domarkiene, Zita Ausrele Kucinskiene
Frequency of CYP2D6 poor metabolizers in a
sample of Cuban patients with schizophrenia
Hilda Roblejo-Balbuena1, Fernando de Andres2,
Beatriz Marcheco1, Giselle Monzon1, Teresa Collazo1,
Adrian Llerena2
Department of Human and Medical Genetics, Vilnius
University, Lithuania
1
National Center of Medical Genetics, Medical University of
Havana, Cuba, 2CICAB Clinical Research Centre, Extremadura
University Hospital and Medical School, Badajoz, Spain
Wed(4)-P-204
Genetic risk factors for phenobarbital and
phenytoin-induced cutaneous adverse drug
reactions in Japanese population
Wed(4)-P-200
Trans-ethnic Study of N-acetyltransferase 2
diplotypes in anti-tuberculosis drug-induced
liver injury across Thai, Japanese, and
Indonesian patients
Takeshi Ozeki1, Taisei Mushiroda1, Atsushi Takahashi2,
Michiaki Kubo3
1
Laboratory for Pharmacogenomics, RIKEN Center for
Integrative Medical Sciences, Japan, 2Laboratory for Stastical
Analysis, RIKEN Center for Integrative Medical Sciences,
3
RIKEN Center for Integrative Medical Sciences
Supharat Suvichapanich1, Rika Yuliwulandari2,
Taisei Mushiroda3, Hideki Yanai4,
Sukanya Wattanapokayakit5,
Surakameth Mahasirimongkol5, Katsushi Tokunaga1
1
Department of Human Genetics, Graduate School of
Medicine, University of Tokyo, Bunkyo-ku, Tokyo, Japan,
2
The University of Yarsi, Jakarta, Indonesia, 3Laboratory for
Pharmacogenomics, RIKEN Center for Integrative Medical
Sciences, Yokohama, Japan, 4Fukujuji Hospital, Japan AntiTuberculosis Association, Kiyose, Japan, 5Medical Genetics
Center, Medical Life Sciences Institute, Department of Medical
Sciences, Ministry of Public Health, Nonthaburi, Thailand
269
Workshops
Yu-Li Liu1,2, Hsiang-Wei Kuo1, Jieh-Hen Tsung1,
Sheng-Wen Liu1, Sheng-Chang Wang1,
Chia-Lung Shih1
Jia Lian Yang , Chih-Yu Chen , Yu-Ning Teng ,
Ying-Tzu Chang1, Ying-Chieh Chen1, Wei-Chieh Liao1,
1
Poster Session
Systemic analyses of a methadone maintenance
population reveal plasma N-cadherin network to
treatment outcome
Impact of HTR2A genetic polymorphisms on
treatment outcomes of risperidone in patients
with schizophrenia
Wed(4)-P-202
Wed(4)-P-198
1
Plenary Lecture
Wed(4)-P-197
April 6 (Wed.)
Program
ICHG2016
Wed(4)-P-205
Wed(4)-P-207
Opportunities and Obstacles to International
Implementation of Genetic Screening for
Stevens Johnson Syndrome/Toxic Epidermal
Necrolysis: The Global Genomic Medicine
Collaborative (G2MC)
Performance of Novel Direct NAT2 haplotyping
in Thai populations
Nuanjun Wichukchinda1, Wimala Inunchot1,
Jirapha Pakdee1, Punna Kunhapan1,
Supharat Suvichapanich1, Phongpan Muakmued1,
Sukanya Wattanapokayakit1, Nusara Satpoedprai1,
Licht Toyo-oka2, Katsushi Tokunaga2,
Surakameth Mahasirimongkol1
Teri A. Manolio1, Mark Avigan2, Wasun Chantratita3,
Wen-Hung Chung4, Ricardo Cibotti5, Robert L Davis6,
Joshua C Denny7, Carolyn M Hutter1, Lois LaGrenade2,
Surakameth Mahasirimongkol8, Munir Pirmohamed9,
Neil H Shear10, Jeffery Struewing1,
Cynthia Sung11, Ronald van Schaik12, Robyn Ward13,
Lisa M Wheatley14,15, Geoffrey S Ginsburg15
1
Department of Medical Sciences, Medical Life Sciences
Institute, Thailand, 2Department of Human Genetics, Graduate
School of Medicine, The University of Tokyo, Japan
Wed(4)-P-208
1
Division of Genomic Medicine, National Human Genome
Research Institute, National Institutes of Health, Bethesda
MD, USA, 2Center for Drug Evaluation and Research, U.S.
Food and Drug Administration, Silver Spring MD, 3Medical
Genomic Center, Ramathibodi Hospital, Mahidol University,
Bangkok, Thailand, 4Department of Dermatology, Drug
Hypersensitivity Clinical and Research Center, Chang Gung
Memorial Hospitals, Taipei, Linkou, and Keelung, and College
of Medicine, Chang Gung University, Taiwan, 5Division of Skin
and Rheumatic Diseases, National Institute of Arthritis and
Musculoskeletal and Skin Diseases, Bethesda MD, 6Center
for Biomedical Informatics, University of Tennessee Health
Science Center, Memphis TN, 7Departments of Biomedical
Informatics and Medicine, Vanderbilt University, Nashville TN,
8
Medical Genetics Center, Medical Life Sciences Institute,
Department of Medical Sciences, Ministry of Public Health,
Nonthaburi, Thailand, 9Institute of Translational Medicine,
University of Liverpool, Liverpool UK, 10Department of
Medicine (Dermatology and Clinical Pharmacology and
Toxicology), University of Toronto, Toronto Canada, 11DukeNational University of Singapore Graduate Medical School,
Singapore, 12Department of Clinical Chemistry at the Erasmus
University Medical Center, Rotterdam, The Netherlands,
13
Level 3 Brian Wilson Chancellery, University of Queensland,
Brisbane, Queensland, Australia, 14Division of Allergy,
Immunology, and Transplantation, National Institute of Allergy
and Infectious Diseases, Bethesda MD, 15Center for Applied
Genomics and Precision Medicine, Duke University, Durham
NC
The Evaluation of AmpliChip™ CYP450 Test
and Luminex xTAG® platforms for detection of
polymorphisms in genes encoding CYP2D6 drug
metabolizing enzyme in Thai subjects
Monpat Chamnanphon
Pathology, Division of Pharmacogenomics and Personalized
Medicine, Faculty of Medicine, Mahidol University, Thailand
Wed(4)-P-209
Development of a method for targeted
resequencing of 100 pharmacogenes
Koya Fukunaga1, Yukihide Momozawa2,
Michiaki Kubo3, Taisei Mushiroda1
1
Laboratory for Pharmacogenomics, RIKEN Center for
Integrative Medical Sciences, Japan, 2Laboratory for
Genotyping Development, RIKEN Center for Integrative
Medical Sciences, 3RIKEN Center for Integrative Medical
Sciences
Wed(4)-P-210
Risking Cardiac Failure to Cure Cancer:
Identifying the Risk Factors for Adverse Drug
Events
Horacia Naidoo1, Rajkumar S Ramesar1,
Hannah Simonds2
Wed(4)-P-206
NUCLEOTIDE VARIANTS IN THE PROMOTER
REGION OF THE THYMYDILATE SYNTHASE
GENE PREDICT FOR TOXICITY TO
FLUOROPYRIMIDINES IN COLORECTAL
CANCER PATIENTS
1
Pathology - Human Genetics, University of Cape Town,
South Africa, 2Radiation Oncology, Tygerberg Hospital,
University of Stellenbosch
Wed(4)-P-211
Determinants of plasma concentrations of
rosuvastatin and its metabolite in Chinese
patients with hypercholesterolaemia by genomewide analysis
Augusto Rojas-Martinez1,2, Carlos Castro-Rojas1,2,3,
Irma S. Garcia-Gonzalez4,
Sergio Buenaventura-Cisneros4,5,
Oralia Barboza-Quintana5, Hector Maldonado-Garza5,
Juan F. Gonzalez-Guerrero5, Rocio Ortiz-Lopez1,2
Miao Hu1, Rui Sun2, Maggie Wang2, Claudia Tam1,
Ronald Ma1, Juliana Chan1, Brian Tomlinson1
1
Centro de Investigacion y Desarrollo en Ciencias de la Salud,
Universidad Autonoma de Nuevo Leon, Mexico, 2School of
Medicine, Universidad Autonoma de Nuevo Leon (Monterrey,
Mexico), 3School of Medicine, Universidad El Bosque (Bogota,
Colombia), 4Centro Medico Nacional del Noreste UMAE 25,
IMSS (Monterrey, Mexico), 5University Hospital - Universidad
Autonoma de Nuevo Leon (Monterrey, Mexico)
1
Department of Medicine & Therapeutics, The Chinese
University of Hong Kong, Hong Kong, 2JC School of Public
Health and Primary Care, The Chinese University of Hong
Kong
270
Wed(4)-P-217
Genome-wide analysis for determinants of
plasma concentrations of simvastatin and
simvastatin acid in Chinese patients with
hypercholesterolaemia
Consanguinity and its genetic consequences:
a detailed analysis of a cohort with multiple
disabilities using SNP array
Frenny J Sheth1, George Mampilly2, Tomy Mampilly2,
Stuti Tewari1, Boris Keren3, Neeradha Chandramohan2,
Vijayalakshmy Janaki2, Jayesh Sheth1
Tomlinson Brian1, Miao Hu1, Rui Sun2, Maggie Wang2,
Claudia Tam1, Ronald Ma1, Juliana Chan1
1
Cytogenetics and Molecular Cytogenetics, FRIGE's Institute
of Human Genetics, India, 2Department of Physical Medicine &
Rehabilitation, National Institute for Empowerment of Persons
with Multiple Disabilities, Tamil Nadu, India, 3Assistance
publique Hôpitaux de Paris, France
1
Department of Medicine & Therapeutics, The Chinese
University of Hong Kong, Hong Kong, 2JC School of Public
Health and Primary Care, The Chinese University of Hong
Kong
Wed(4)-P-213
Plenary Lecture
Wed(4)-P-212
April 6 (Wed.)
Program
Faezeh Vasheghani Farahani1, Marry Ann Thomas2,
Bob Argiropoulos2, Judy Chernos2
1
Human Genetics, McGill university, Canada, 2Alberta Children
Hospital, Calgary, AB, Canada
Cytogenetics
Wed(4)-P-219
Visualization of Cytogenetic Testing in Clinical
Genetics
Wed(4)-P-214
Two novel constitutional incidental findings
discovered during cancer workout may explain
patient excessive clinical feature
Mamoru Ozaki1, Yo Niida1,2, Etsuko Takase2,
Yoritsune Ito2,3, Hitoshi Sato2,3, Toshiro Ikeda4
1
Medical Research Institute, Kanazawa Medical University,
Japan, 2Center of Genetic Counseling, Kanazawa Medical
University Hospital, 3Pediatrics, Kanazawa Medical University
Hospital, 4Genetic Counseling Unit, Kagoshima University
Hospital
Jacqueline R Batanian1,2, Mark Fesler3,
Leonard Grosso4, Sagun Goyal3, Cuevas Daniel4
1
Pediatrics, Saint Louis University, USA, 2Cardinal Glennon
Children's SSM Medical Center, 3Hematology, Saint Louis
University, 4DePaul Health Center SSM Medical Center
Wed(4)-P-220
The importance of root cause analysis following
an external quality assessment (EQA) to improve
the quality of a diagnostic service
Wed(4)-P-215
Interstitial Structural Variations associated with
Congenital Anomalies
Rosalind J Hastings1, Nicola Foot2, Cheryl Guiver1,
Sheila O'Connor3, Bettina Quellhorst-Pawley1,
Eva van den Berg de Ruiter4
Mariluce Riegel1,2, Rafaella Mergener2,
Rafael FM Rosa3
1
Service of Medical Genetics,Hospital de Clinicas de Porto
Alegre, Porto Alegre, RS, Brazil, 2Postgraduate Program in
Genetics and Molecular Biology, Federal University of Rio
Grande do Sul, Porto Alegre, RS, Brazil, 3Clinical Genetics,
Universidade Federal de Ciências da Saude de Porto Alegre
(UFCSPA) and Complexo Hospitalar Santa Casa de Porto
Alegre (CHSCPA), RS, Brazil
1
CEQAS, Oxford University Hospitals NHS Foundation
Trust, UK, 2Viapath Genetic Labs, Guys & St Thomas's NHS
Foundation Trust, 3Haematological Malignancy Diagnostic
Service, Leeds Teaching Hospitals NHS Trust, Leeds, 4Dept.
of Genetics, University of Groningen, The Netherlands
Wed(4)-P-221
MODIFYING INFLUENCE OF OCCUPATIONAL
INFLAMMATORY DISEASES ON THE LEVEL
OF CHROMOSOME ABERRATIONS IN COAL
MINERS
Wed(4)-P-216
Genomic imbalances associated with
conotruncal heart defects
Mariluce Riegel1, Karen R.S. de Souza2,
Nathalia Ortigara1, Lucia Pellanda3
Maxim Yu. Sinitsky1,2, Valentin P. Volobaev1,
Yury E. Kulemin2, Aleksey V. Larionov1,
Varvara I. Minina1,2, Alina V. Meyer1, Marina V. Ulyanova1
1
Service of Medical Genetics, Hospital de Clinicas de Porto
Alegre, RS, Brazil, 2Postgraduate Program in Genetics and
Molecular Biology, Universidade Federal do Rio Grande do
Sul (UFRGS),RS, Brazil, 3Institute of Cardiology, University
Foundation of Cardiology, RS, Brazil
1
Biology Faculty, Department of Genetics, Kemerovo State
University, Russia, 2Laboratory of Cytogenetics, Institute of
Human Ecology of SB RAS
271
Workshops
1
Pharmacogenetics, Dr. Margarete Fischer-Bosch Institute
of Clinical Pharmacology, Germany, 2University Tuebingen,
3
CEGAT GmbH Tuebingen
Poster Session
Molecular cytogenetic characterization of an
analphoid marker chromosome derived from
12 pter in Pallister Killian diagnosis: First case
report in Canada and review of the reported
cases
Kathrin Klein1,2, Roman Tremmel1,2, Sarah Fehr3,
Stefan Winter1,2, Elke Schaeffeler1,2, Matthias Schwab1,2,
Saskia Biskup3, Ulrich M Zanger1,2
Wed(4)-P-218
Targeted resequencing of 340 ADME genes in
human liver
ICHG2016
Wed(4)-P-223
Wed(4)-P-228
Paternal Uniparental Disomy (UPD)
Chromosome 14-like syndrome due to a rare
case of partial deletion of the imprinting region
at 14q32.1-32.2.
Turner Syndrome Caused by Rare Complicated
X Chromosomal Structural Abnormalities
Susan G. Brown1, Lesley K McGregor2,
Alison H Attwood1, Sarah M Smith1, Sui Yu1
1
Institute of Pediatric Translational Medicine, Shanghai
Children Medical Center, Shanghai Jiaotong University School
of Medicine, China, 2Department of Endocrinology and
Metabolism, Shanghai Children Medical Center, Shanghai
Jiaotong University School of Medicine, 3Department of
Medical Genetics, Shanghai Children Medical Center,
Shanghai Jiaotong University School of Medicine
Niu Li1,3, Juan Li2, Tingting Yu1,3, Xiumin Wang2,3,
Yiping Shen3, Jian Wang1,3
1
Genetics and Molecular Pathology, SA Pathology, Australia,
SA Clinical Genetics Service, Australia
2
Wed(4)-P-224
Duplication/Deletion in chromosome 13 arising
from a maternal paracentric inversion: A U-Type
Recombination Event
Wed(4)-P-229
array CGH analysis of first and second trimester
euploid miscarriages
Ben A Lundie1, Jasen Anderson1, Ross Brookwell1,
Michael Gattas1, James Harraway1, Mana Mahrjouy2,
Niels Tommerup2
1
Alihossein Saberi1, Golamreza Shariati1,2,
Hamid Galehdari2,3, Mohammad Hamid2,4,
Nehzat Abdorasouli2
2
Sullivan Nicolaides Pathology, Australia, Willhelm Johannsen
Centre For Functional Genome Research, University of
Copenhagen, Denmark
1
Medical Genetics, Ahvaz Jundishapour University of Medical
Sciences, Iran, 2Narge Genetics and PND Laboratory,
3
Department of Genetic, Shahid Chamran University,
4
Department of Biotechnology, Pasteur Insistute, Tehran, Iran
Wed(4)-P-225
Chromosomal aberrations detected in Idiopathic
mental retardation and multiple congenital
abnormalities (MCA): Validation of molecular
cytogenetic techniques High resolution banding
(HRB) and Fluorescent in Situ Hybridization
(FISH)
Wed(4)-P-230
VRK2 : A Novel Gene Causing Isolated
Autosomal Dominant Bilateral Congenital Optic
Nerve Hypoplasia
Eva Pipiras1, Suzanne Kuzbari2, Jonathan Levy3,
Camille Leroy3, Celine Dupont3, Marine Durand1,
Anne-Claude Tabet3, Brigitte Benzacken1, Pierre Bitoun4
Venkatesh Huskur Narayana Rao,
Jeru Manoj Manuel, Chetan G K
1
Service d'histologie embryologie et cytogenetique, Hopital
Jean Verdier, France, 2Departement de Genetique, Genetique
moleculaire, Hopital Robert Debre, 3Departement de
Genetique, Cytogenetique, Hopital Robert Debre, 4Service de
Pediatrie, Hopital Jean Verdier
Human Genetics, NIMHANS, India
Wed(4)-P-226
Clinical and Molecular Delineation of Duplication
19p13.2 encompassing NFIX
Wed(4)-P-231
Carlos Venegas1,2, Mariano Guardado3,
Consuelo Cantu4, Luis Zepeda4, Rony Kersenovich5,
Jaime Berumen2,3, Gildardo Zafra5
FREQUENCY OF CHROMOSOMAL BREAKS IN
SUSPECTED CASES OF FANCONI'S ANAEMIAA SINGLE CENTER EXPERIENCE
1
Servicio de Genetica, Hospital General de Mexico, Mexico,
Facultad de Medicina UNAM, 3Servicio de Medicina
Genomica. Hospital General de Mexico, 4GENOMI-K,
Monterrey NL, 5Genomica. Hospital Espanol
2
Saira Shan1, Muhammad Nadeem2,
Sheeba Shehzad3, Saqib Ansari4, Mehwish Taj4,
Munira Borhany4, Tasneem Farzana4, Tahir S Shamsi4
1
Clinical & Molecular Cytogenetics, National Institute of
Blood Disease & Bone Marrow Transplantation Karachi,
Pakistan, 2National Institute of Blood Disease & Bone Marrow
Transplantation, 3Karachi Institute of Biotechnology & Genetics
Eng (KIBGE), University of Karachi, 4National Institute of Blood
Disease & Bone Marrow Transplantation
Wed(4)-P-227
SCREENING OF MARKER CHROMOSOMES
AND METHYL CpG BINDING PROTEIN-2
(MeCP2) POLYMORPHISM IN SCHIZOPHRENIA
PATIENTS IN COIMBATORE - A PILOT STUDY
Gomathi Mohan, Mahalaxmi Iyer,
Balachandar Vellingiri, Sasikala Keshavrao, Human
Molecular Genetics and Stem Cell Laboratory
Wed(4)-P-232
Computer simulation analysis of the threedimensional relative positioning of chromosome
21 territories in the human 21 trisomy cell nuclei
Department of Human Genetics and Molecular Biology,
Bharathiar University, India
Koichi Sekizawa1, Tomohisa Kato1, Hideyuki Tanabe2
1
Faculty of Health Sciences, Kyorin University, Japan,
Department of Evolutionary Studies of Biosystems, School of
Advanced Studies, SOKENDAI (The Graduate University for
Advanced Studies)
2
272
A 3-way balanced interstitial translocation
between chromosome 3, 4, 1 leads to male
infertility
HeeJu Park, RaJin Kwon, SooMin Lee, SangHee Go,
SoHyun Park, SuKyung Jo, DongSuk Lee, KiChul Kim,
DoYeong Hwang
Arda Cetinkaya, Ali Karaman, M. Burak Mutlu
Medical Genetics, Zeynep Kamil Women and Children's
Hospital, Turkey
Hamchoon Women's Clinic, Korea, South
Wed(4)-P-240
Wed(4)-P-234
Sonika Sharma, Vandana Lal, Saurabh K Bhattacharya
Genetic analyses of Korean patients
with unexplained mental retardation and
developmental delay using the multiple ligationdependent probe amplification (MLPA) and
array-based comparative genomic hybridization
(array CGH)
Wed(4)-P-235
Se Ra Sung1, Ji Eun Park1, Kyung Min Kang1,
Dong Hyun Cha1,2, Min Young Kim3, Sang Woo Lyu2,
Youl Hee Cho4, Sung Han Shim1
A novel Four-way Philadelphia translocation
t(9;22;3;1)(q34;q11.2;q26;q32) along with unusual
t(8;17) in a chronic myeloid leukemia patient in
chronic phase
Cytogenetics, Dr Lal Path Labs, New Delhi, India
1
Genetics Laboratory of Fertility Center, CHA University
School of Medicine, Korea, South, 2Department of Obstetrics
and Gynecology, CHA Gangnam Medical Center, CHA
University, 3Department of Rehabilitation Medicine, CHA
Bundang Medical Center, CHA University, 4Department of
Medical Genetics, Hanyang University
The role of ROS in the context of the arecolineinduced mitotic chromosome fragmentation and
nonapoptotic cell death
Yueh-Chun Li
Biomedical Sciences, Chung-Shan Medical University, Taiwan
Wed(4)-P-241
Wed(4)-P-236
Mechanisms of Interchromosomal Insertional
Translocation
Postnatal diagnosis for DiGeorge syndrome
in National Hospital of Pediatrics, Viet Nam by
using FISH technique
Takema Kato1, Yuya Ouchi2, Hidehito Inagaki1,2,
Yoshio Makita3, Seiji Mizuno4, Hiroki Kurahashi1,2
Le T. Lieu, Dinh T.H. Nhung, Ngo D. Ngoc
Human Genetic Department, National Hospital of Pediatrics,
Vietnam
1
Division of Molecular Genetics, Fujita Health University,
Japan, 2Genome and Transcriptome Analysis Center, Fujita
Health University, 3Education Center, Asahikawa Medical
University, 4Department of Pediatrics, Central Hospital, Aichi
Human Service Center
Plenary Lecture
Wed(4)-P-239
Prenatal diagnosis of the unbalanced
translocation between chromosome 15 and
Y-chromosome in a female fetus
Wed(4)-P-233
April 6 (Wed.)
Program
Cytogenetic characterization of Sri Lankan
patients with de novo Myelodysplastic
Syndromes
Wed(4)-P-237
Chromosomal instability and genomic
diversity of neurons in aging brain and in
neurodegeneration
W. M. Manoj S Bandara1,2, Hemali W W Goonasekera1,
Vajira H W Dissanayake1
Workshops
Wed(4)-P-242
Department of Basic Medical Sciences, Wroclaw Medical
University, Poland
Wed(4)-P-243
Wed(4)-P-238
A case of Langer-Giedion syndrome with a
deletion on chromosome 8q and a balanced
reciprocal translocation between chromosomes
2 and 4
Xq DISOMY IN A MALE PATIENT WITH
AN UNBALANCED t (X;15)(p11.1;p13)
TRANSLOCATION AND A RARE
X-INACTIVATION PATTERN
Emre Kirat1, Asuman Koparir1, Hatip Aydin2,
Mehmet Seven1, Hakan Ulucan1
Gianna Carvalheira1, Luiza Sisdelli1, Angela Vidi2,3,
Mariana Moyses-Oliveira1, Danilo Moretti-Ferreira4,
Magnus R Dias da Silva2,3, Maria Isabel Melaragno1,
Adriana Di Battista1
1
Cerrahpasa Medical School of Istanbul University, Turkey,
Department of Medical Genetics Namik Kemal University
2
1
Morphology and Genetics, UNIFESP, Brazil, 2Biochemistry,
UNIFESP, 3Medicine, UNIFESP, 4Genetics, UNESP
Wed(4)-P-244
A rare case of long term survival in a girl with
Patau syndrome
Mehmet B Duz, Mehmet Seven, Hakan Ulucan
Medical Genetics, Istanbul University, Cerrahpasa Medical
School, Turkey
273
Poster Session
1
Hunam Genetics Unit, Faculty of Medicine, University of
Colombo, Sri Lanka, 2Department of Pre-Clinical Sciences
Faculty of Medicine, General Sir John Kotelawala Defence
University
Kazimierz Gasiorowski
ICHG2016
Wed(4)-P-250
Prenatal, Perinatal and Reproductive
Genetics
Evaluation of non-invasive prenatal testing of
aneuploidy from maternal plasma in our hospital
Yuko Matsubara, Keiichi Matsubara, Yuka Uchikura,
Kazuko Takagi, Takashi Sugiyama
Wed(4)-P-245
The regulatory micro-RNAs of EG-VEGF and
their effects on trophoblastic cell function
Obstet and Gynecology, Ehime University Graduate School of
Medicine, Japan
Meitsz Su, Yichi Chen
Wed(4)-P-251
National Cheng Kung University, Taiwan
Prenatal diagnosis of the Premature
chromosome separation/ mosaic variegated
aneuploidy (PCS/MVA) syndrome in fetus with
microcephalus
Wed(4)-P-246
False positive cases from non-invasive prenatal
testing at a single tertiary hospital
Masanao Ohashi1, Masatoshi Yamaguchi1,2,
Makiko Ishii2, Tomoko Yamaguchi1, Keiko Akeno1,
Midori Fijisaki1, Chikako Sumiyoshi1,
Hiroshi Sameshima1, Mamoru Ozaki3, Takema Kato4,
Hideto Inagaki4, Hiroki Kurahashi4
Takol Chareonsirisuthigul1, Wasun Chantratita1,
Ekawat Pasomsub1, Budsaba Rerkamnuaychoke1,
Somsri Pitukkijronnakorn2, Panyu Panburana2
1
Hospital, Mahidol University, Thailand, 2Department of
Obstetrics and Gynecology, Faculty of Medicine Ramathibodi
Hospital, Mahidol University
1
Obstetrics and Gynecology, University of Miyazaki, Japan,
Division of Clinical Genetics, University of Miyazaki Hospital,
3
Division of Genomic Medicine, Department of Advanced
Medicine, Medical Research Institute, Kanazawa Medical
University, 4Division of Molecular Genetics, Institute for
Comprehensive Medical Science, Fujita Health University
2
Wed(4)-P-247
Maternal mental stress and background of
pregnant women who underwent NIPT at
Nagoya City University Hospital
Wed(4)-P-252
The importance of pre-screening counseling
- parents need more and precise information
about fetal anomaly and aneuploidy screening
scan
Kyoko Kumagai, Nobuhiro Suzumori, Eri Takeda,
Kumiko Oseto, Yuki Obayashi, Yousuke Matsumoto,
Mayumi Sugiura
Obstetrics and Gynecology, Clinical Genetics, Nagoya City
University, Japan
Masahito Mizuuchi, Mizue Teramoto, Tsuyoshi Baba,
Shinichi Ishioka, Toshiaki Endo, Tsuyoshi Saito
Wed(4)-P-248
Dept. of Obstetrics, Sapporo Medical University, Japan
Clinical study of pregnant women with myotonic
dystrophy and their new born babies
1,2
Wed(4)-P-253
Can we construct a genetic prediction model
for gestational diabetes mellitus in a Japanese
population?
Yoshika Akizawa , Mari Urano , Yuko Sato ,
Masaki Ogawa1, Eiji Nanba3, Hideo Matsui1,
Kayoko Saito2
2
2
1
Obstetrics and Gynecology, Tokyo Women's Medical
University, Japan, 2Institute of Medical Genetics, Tokyo
Women's Medical University, 3Division of Functional
Genomics, Research Center for Bioscience and Technology,
Tottori University
Yoshifumi Kasuga1,2, Kei Miyakoshi1, Naoko Arata3,
Atsushi Tajima4, Mamoru Tanaka1, Kenichiro Hata2
1
Department of Obstetrics and Gynecology, Keio University,
School of Medicine, Japan, 2Department of Maternal-Fetal
Biology, National Research Institute for Child Health and
Development, 3Department of Women's Health, National
Center for Child Health and Development, 4Department of
Bioinformatics and Genomics, Graduate School of Medical
Sciences, Kanazawa University
Wed(4)-P-249
Survey of University Student Attitude Toward
Pre-conception Carrier Screening in Japan
Akane Kondo1,2, Michiko Sone1, Shizue Nambara1,
Kaori Mori1, Tomoko Iba1, Daichi Nakaoku1,
Masahiro Murakami1, Mikio Morine1, Kenji Hinokio1,
Shunichiro Izumi2, Kazuhisa Maeda1
Wed(4)-P-254
Background of couples undergoing non-invasive
prenatal testing (NIPT) in Japan
1
Clinical Genetics, OBGYN, Shikoku Medical Center for
Children and Adults, Japan, 2Clinical Genetics, Toaki University
School of Medicine
Eri Takeda1,2, Nobuhiro Suzumori1, Kyoko Kumagai1,
Kumiko Oseto1, Takeshi Ebara1, Junko Yotsumoto2,
Hironao Numabe2, Mayumi Sugiura-Ogasawara1
1
Nagoya City University Hospital, Japan, 2Ochanomizu
University
274
Hironobu Hyodo, Norihiko Nakazato, Naoko Fukuda,
Etsuko Saito, Yukiko Fuse, Kanami Higashiue,
Chikako Hikosaka, Midori Funakura, Takayuki Seiki,
Sorahiro Sunagawa, Satoshi Okada,
Takahiro Kasamatsu, Koji Kugu
Oak Clinic, Japan
Wed(4)-P-256
Fetal Pallister-Killian syndrome with congenital
diaphragmatic hernia, umbilical hernia and
hydrops: a case report of prenatal genetic
counseling and grief care
Department of Obstetrics and Gynecology, Tokyo Metropolitan
Bokutoh Hospital, Japan
Wed(4)-P-262
Outcomes of 31 cases of trisomy 13 diagnosed
in utero: A single center experience
Susumu Miyashita, Hiroshi Suzumura,
Yoshiyuki Watabe, Kazumi Tada, Hiroshi Watanabe,
Ichio Fukasawa
Ken Takahashi1, Aiko Sasaki1, Miyuki Nishiyama1,2,
Chizuko Fujimura4, Rika Sugibayashi2,
Katsusuke Ozawa2, Yuka Wada3, Seiji Wada2,
Rika Kosaki4, Yushi Ito3, Haruhiko Sago1,2,3
Perinatal Medical Center, Dokkyo Medical University, Japan
Wed(4)-P-257
1
Division of Obstetrics, Center for Maternal-Fetal, Neonatal
and Reproductive Medicine National Center for Child Health
and Development, Japan, 2Division of Fetal Medicine, Center
for Maternal-Fetal, Neonatal and Reproductive Medicine
National Center for Child Health and Development, 3Division
of Neonatology, Center for Maternal-Fetal, Neonatal and
Reproductive Medicine National Center for Child Health and
Development, 4Division of Medical Genetics, Department of
Medical Subspecialties National Center for Child Health and
Development
Variants in maternal effect genes NLRP7 and
C6orf221 are not a common risk factor for molar
pregnancy manifesting as sporadic or familiar
cases
Iwona Pinkier1, Lucjusz Jakubowski1,
Aleksander Jamsheer2, Urszula Wysocka1,
Magda Rybak3, Agnieszka Gach1
1
Department of Genetics, Polish Mother's Memorial Hospital
Research Institute, Lodz, Poland, 2Department of Medical
Genetics, Poznan University of Medical Sciences, Poznan,
Poland, 3Department of Obstetrics and Perinatology,
University Hospital in Krakow, Poland
Wed(4)-P-263
Clinical Significance of Introduction of Y
Chromosome Microdeletion Screening in
Assisted Reproductive Technology Clinics
Wed(4)-P-258
Superimposed preeclampsia complicated with
multiple endocrine neoplasia type 1
Sumihide Okamoto1, Rinko Fukushima1,
Yasuko Ueda1, Jiro Eguchi2, Hiroshi Yokoyama3,
Toshiaki Akiyoshi1
Yoshinori Moriyama, Tomomi Kotani, Satoko Osuka,
Yumiko Ito, Maki Goto, Fumi Utsumi, Fumitaka Kikkawa
1
ART Okamoto Women's Clinic, Japan, 2Sasebo Mutual
Hosipital, 3Yokoyama Hospital
Department of Obstetrics and Gynecology, Nagoya University
Graduate School of Medicine, Japan
Wed(4)-P-264
Wed(4)-P-259
Genetic counseling for recurrent miscarriage
patients with abnormalities of chromosome
structure who have already had live children
with duplication or deletion of the involved
chromosomal region
The Usefulness of Interphase Fluorescence In
Situ Hybridization (iFISH) for Prenatal Diagnosis
Hiroaki Nakamura1,2, Nobuyoshi Tamagawa1,
Masaru Kato1, Akiko Murakami1, Takane Aoyama1,
Sachiyo Nishimoto2, Koji Kajitani2, Kazuharu Tanaka2,
Osamu Nakamoto2, Michiko Watanabe1, Toru Yorifuji1
Toshiaki Endo1,3, Tsuyoshi Baba1, Masahito Mizuuchi1,
Mizue Teramoto1, Shinichi Ishioka1, Aki Ishikawa2,
Akihiro Sakurai2, Tamotsu Kiya3, Akira Nishikawa4,
Osamu Moriwaka5, Hiroshi Hata6, Takema Kato7,
Hiroki Kurahashi7, Yuko Takasu1, Tsuyoshi Saito1
1
Genetic Medicine, Osaka City General Hospital, Japan,
Obstetrics, Osaka City General Hospital
2
1
Obstetrics and Gynecology, Sapporo Medical University,
Japan, 2Medical Genetics, Sapporo Medical University, 3Ena
Ladies' Clinic, 4NTT East Japan Hospital, Sapporo, 5Kamiya
Ladies' Clinic, 6Oyachi Ladies' Clinic, 7Molecular Genetics,
Fujita Health University
Wed(4)-P-260
Prenatal diagnosis of microdeletion/
microduplication syndrome using MLPA (Multiple
Ligation -dependent Probe Amplification) in
Korean
Sohyun Na, Sanghee Go, Surim Park, Dongsuk Lee,
Kunwoo Kim, Soonha Yang, Ki Chul Kim,
Doyeong Hwang
Hamchoon Institute of Fertility & Genetics, Korea, South
275
Plenary Lecture
Miyako Funabiki, Sagiri Taguchi, Yoshitaka Nakamura
Current condition and issues of prenatal testing
at a tertiary center for maternal-fetal and
neonatal medicine
Workshops
Wed(4)-P-261
Abnormally high levels of serum α-klotho result
in a poor outcome for clinical pregnancy
-A prospective cohort study
Poster Session
Wed(4)-P-255
April 6 (Wed.)
Program
ICHG2016
Wed(4)-P-265
Wed(4)-P-271
A pilot study: function-based analysis of cell free
RNA using amniotic fluid supernatant in smallfor-gestational-age group
A present situation of prenatal diagnosis in our
hospital after non invasive prenatal genetic
testing has started
Dong Hyun Cha1,2, Yeon Kyung Cho1, Yun-Jeong Shin2,
Ji Eun Park2, Sung Han Shim2,3, Yong Wook Jung1
Takayo Shoji1, Norio Miharu1, Kenjiro Nakago1,
Akira Sasaki1, Nobuko Yokoyama2
1
Department of Obstetrics and Gynecology, CHA Gangnam
Medical Center, CHA University, Seoul, Korea, South,
2
Genetics Laboratory, CHA Gangnam Medical Center, CHA
University, Seoul, Korea, 3Fertility Center of CHA Gangnam
Medical Center, CHA University, Seoul, Korea
1
Obstetrics and Gynecology, Chuden Hospital, Japan,
Pediatrics, Chuden Hospital
2
Wed(4)-P-272
Prenatal testing for genetic disease at NCCHD
in Japan
Wed(4)-P-266
Aiko Sasaki1, Seiji Wada1, Kastusuke Ozawa1,
Rika Sugibayasghi1, Chieko Fujimura1,
Miyuki Nishiyama1, Honryon Li1, Ohsuke Migita2,
Yasuyuki Fukuhara1, Motomichi Kosuga1, Rika Kosaki1,
Torayuki Okuyama1, Haruhiko Sago1
Provided information and psychosocial support
for decision-making process of pregnant women
with incidental diagnosis of fetal abnormalities
in Japan - Online based survey
1
National Center for Child Health and Development (NCCHD),
Japan, 2St.Mariannna University School of Medicine
Sayaka Honda1, Hidehiko Miyake2, Yumie Hiraoka1,
Hitomi Nishio1, Akira Inaba1, Manami Matsukawa1,
Eriko Takamine1, Ayumi Yonei1, Shinji Kosugi1,2
1
Genetic Counselor Course, Kyoto University School of Public
Health, Kyoto, Japan, 2Clinical Genetics Unit, Kyoto University
Hospital
Wed(4)-P-273
Prediction of pregnancy with hypertensive
disorders using epigenetic and biochemical
markers
Wed(4)-P-267
JinWoo Kim1, Shin Young Kim1, Hyun Jin Kim1,
Yoo Jung Han2, So Yeon Park1, Hyun Mee Ryu1,2
Investigation of False Positive Rates Newborn
Screening Using Tandem Mass Spectrometry
Technology in Korea, Single Center Study
1
Laboratory of Medical Genetics, Cheil General Hospital and
Women's Healthcare Center, Korea, South, 2Department
of Obstetrics and Gynecology, Cheil General Hospital and
Women's Healthcare Center
Sung Won Park1, Su Jin Kim2
1
Pediatrics, Cheil General Hospital & Wonmen's Health Care
Center, Korea, South, 2Pediatrics, Myunggy Hospital
Wed(4)-P-274
Wed(4)-P-268
Integrative analysis of DNA methylation and
gene expression in trisomy 21 placenta
Association analyses between copy numbers of
genes in the azoospermia factor c (AZFc) region
on the Y chromosome and male infertility
Hyun Mee Ryu1,2, Ji Hyae Lim1, Shin Young Kim1,
Jin Woo Kim1, Jung Yeol Han2, Moon Young Kim2,
So Yeon Park1
Soushi Imani1, Youichi Sato1, Tatsuya Shimozawa1,
Teruaki Iwamoto2, Aiko Yamauchi1
1
Laboratoy of Medical Genetics, Cheil General Hospital and
Women's Healthcare Center, Korea, South, 2Department
of Obstetrics and Gynecology, Cheil General Hospital and
Women's Healthcare Center
1
Pharmaceutical information Science, Biochemical Science,
Tokushima University Graduate School, Japan, 2Center for
Infertility and IVF, International University of Health and Welfare
Hospital
Wed(4)-P-275
Wed(4)-P-269
Nuchal Translucency (NT) doubled the detection
rate of Down syndrome and other chromosome
abnormalities in our experience of 1441 case of
amniocenthesis
A short-term non-verbal psychotherapeutic
intervention on patients in perinatal period with
high anxiety
Kenji Ida1, Kiichi Shimizu1, Kenzo Ida1, Ryoko Imbe1,
Shin-ichi Sonta2, Kaoru Suzumori2, Hiraku Takebe1
Kaori T Mori1,2, Kazuhisa Maeda1,2, Akane Kondo2,
Masahiro Murakami2, Tsuyako Iwai2, Yoshihiro Nakadoi1,
Ichiro Yokota1
1
IDA clinic, Japan, 2Fetal Life Science Center
1
Clinical Research Department, NHO: Shikoku Medical Center
for Children and Adults, Japan, 2Clinical Genetics Center,
NHO: Shikoku Medical Center for Children and Adults
Wed(4)-P-276
Spermatogenic failure by impaired meiotic
sex chromosome inactivation in a mouse with
reciprocal translocation
Wed(4)-P-270
The effect that chromosome aneuploidy
screening using the ultrasound testing gives for
the decision making of the pregnant woman
Makiko Tsutsumi, Takema Kato, Hidehito Inagaki,
Tamae Ohye, Hiroki Kurahashi
ICMS, Fujita Health Univ., Japan
Ryuhei Nagai
Obstetrics, Kochi Health Sciences Center, Japan
276
Jun Miyazaki1,2, Haruki Nishizawa1,
Asuka Kambayashi1, Mayuko Ito1,2, Yoshiteru Noda1,2,
Sumire Terasawa1,2, Takema Kato2, Hironori Miyamura1,
Takao Sekiya1, Hiroki Kurahashi2, Takuma Fujii1
Aya Harada1, Maiko Wagata1,2, Jin Muromoto1,2,
Nobuo Yaegashi3, Gen Nishimura4, Jun Murotsuki1,2
1
Department of Maternal and Fetal Medicine, Miyagi Children's
Hospital, Japan, 2Department of Advanced Developmental
Medicine, Tohoku University Graduate School of Medicine,
3
Department of Obstetrics and Gynecology, Tohoku University
School of Medicine, 4Department of Radiology, Tokyo
Metropolitan Cildren's Medical Center
1
Obstetrics and Gynecology, Fujita Health University, Japan,
Division of Molecular Genetics, Institute for Comprehensive
Medical Science, Fujita Health University
2
Wed(4)-P-283
Three cases of fetal cerebral ventriculomegaries
suggesting inherited hydrocephalus
Wed(4)-P-278
Comparison of FISH and array CGH in the
practice of PGD
Satoko Osuka1, Maki Goto1, Tomomi Kotani1,
Yoshinori Moriyama1, Yumiko Ito1, Fumi Utsumi1,
Yukako Muramatsu2, Yonehiro Kanemura3,4,
Fumitaka Kikkawa1
Risa Mori1, Ryota Kobayashi1, Ayumi Yamamoto1,
Aisaku Fukuda1, Michiko Anmae2, Yoshiharu Nakaoka2,
Tomoko Ioue3, Yoshiharu Morimoto3
1
Department of Obstetrics and Gynecology, Nagoya University
Graduate School of Medicine, Nagoya, Japan, 2Department
of Pediatrics, Nagoya University Graduate School of
Medicine, Nagoya, Japan, 3Division of Regenerative Medicine,
Institute for Clinical Research, Osaka National Hospital,
National Hospital Organization, Osaka, Japan, 4Department
of Neurosurgery, Osaka National Hospital, National Hospital
Organization, Osaka, Japan
1
IVF OSAKA Clinic, Japan, 2IVF Namba Cilinic, 3Horac Grand
Front Osaka Clinic
Wed(4)-P-279
Cytogenetic analysis of products of conception
during 10 years
Nobuaki Ozawa, Mari Mitsui, Aiko Sasaki, Seiji Wada,
Haruhiko Sago
Wed(4)-P-284
Fetal trisomy 3 and trisomy 18 mosaicism case
detected by non-invasive prenatal screening
(NIPS)
Center of Maternal-Fetal, Neonatal and Reproductive
Medicine, National Center for Child Health and Development,
Japan
Chia-Cheng Hung1, Tzu-Hung Lin1,2, Yi-Ning Su1,2
Wed(4)-P-280
1
Sofiva Genomics Co., Ltd., Taiwan, 2Dianthus Maternal Fetal
Medicine Clinic
Factors influencing the uptake of noninvasive
prenatal testing among women of advanced
maternal age
Wed(4)-P-285
Development of Real Time PCR based
approaches for detecting beta globin gene
mutations in free fetal DNA of embryos at risk
for Thalassaemia
Shusaku Hayashi1, Yoko Okamoto1, Keiko Matsuda2,
Shiyo Ota1, Haruka Muto1, Asako Kanai1,
Takeshi Kanagawa1, Keisuke Ishii1, Nobuaki Mitsuda1
1
Maternal-Fetal Medicine, Osaka Medical Center and
Research Institute for Maternal and Child Health, Japan,
2
Medical Genetics, Osaka Medical Center and Research
Institute for Maternal and Child Health
Plenary Lecture
Increased levels of soluble corin in patients with
pre-eclampsia and fetal growth restriction
Wed(4)-P-282
A case of Antley-Bixler syndrome with
hypospadias: prenatal course and key images
for prenatal diagnosis
Workshops
Wed(4)-P-277
April 6 (Wed.)
Program
Molecular Genetics Lab, Thalassaemia Centre, Laiko Hospital,
Greece
Wed(4)-P-281
Decision-making after prenatal genetic
screening testing for fetal trisomies
Wed(4)-P-287
Rina Akaishi, Aiko Sasaki, Miyuki Nishiyama,
Kohei Ogawa, Rika Sugibayashi, Katsusuke Ozawa,
Masaki Sekiguchi, Nagayoshi Umehara, Mariko Uehara,
Norihiko Kikuchi, shinji Tanigaki, Seiji Wada,
Nobuaki Ozawa, Haruhiko Sago
Cytogenetic confirmation of a positive
NIPT result: chorionic villus sampling or
amniocentesis?
Diane Van Opstal, Malgorzata Srebniak
Center of Maternal-Fetal, Neonatal and Reproductive
Medicine, National Center for Child Health and Development,
Japan
Clinical Genetics, Erasmus MC, Netherlands
Wed(4)-P-288
AZF/Y chromosome microdeletions - when a
deletion isn't there
Peter D Field, Melinda Richter, Nicole J Martin
Molecular Genetics, Virtus Health Specialist Diagnostics,
Australia
277
Poster Session
Effrossyni Boutou, Angeliki Balassopoulou,
Flora Strikou, Lambros Ikonomopoulos,
Christos Chassanidis, Ersi Voskaridou
ICHG2016
Wed(4)-P-289
Wed(4)-P-294
A rare case report: monozygotic quadruplets
following intracytoplasmic sperm injection (ICSI)
and single blastocyst transfer (SBT)
Single cell analysis for adrenoleukodystrophy
by long range PCR: approach for ABCD1 gene
having homologous pseudogenes
Maki Kusumi1,2, Kenichiro Hata2, Toshihiro Fujiwara1,
Hiromi Kamura2, Osamu Tsutsumi1
Akira Nakabayashi1, Kou Sueoka1, Suguru Sato1,
Kotaro Iino1, Hiroshi Senba1, Mariko Suzuki1,
Yuki Mizuguchi1, Kenji Sato1, Mamoru Tanaka1,
Shoji Tsuji2
1
Sanno Hospital, Japan, 2National Center for Child Health and
Development
1
Department of Obstetrics and Gynecology, Keio University
School of Medicin, Japan, 2Department of Neurology, the
University of Tokyo
Wed(4)-P-290
Where our clients actually come from for genetic
counseling/prenatal testing: The Hokkaido
survey
Wed(4)-P-295
Zygosity and pregnancy complications
according to mode of conception in triplet
pregnancy
Yuka Shibata, Takahiro Yamada, Rina Akaishi,
Takashi Kojima, Kazutoshi Cho, Ichiro Yabe
Hokkaido University Hospital, Japan
Seung Mi Lee, Chan-Wook Park, Joong Shin Park,
Young Min Choi, Jong Kwan Jun
Wed(4)-P-291
Department of Obstetrics and Gynecology, Seoul National
University College of Medicine, Korea, South
Circulating levels of C19MC-cluster
microRNAs in pregnant women with abruptio
placentaCirculating levels of C19MC-cluster
microRNAs in pregnant women with abruptio
placenta
Wed(4)-P-296
Two-year experience of a prenatal genetics
clinic in Japan: what are the problems that we
need to consider?
Yuri Hasegawa1, Kiyonori Miura1, Ai Higashijima1,
Yuko Murakami1, Ozora Tsukamoto1, Shuhei Abe1,
Naoki Fuchi1, Shoko Miura1, Atsushi Yoshida1,
Hiroyuki Mishima2, Akira Kinoshita2, Ko-ichiro Yoshiura2,
Hideaki Masuzaki1
Yasushi Nakamura1, Chieko Tamura1, Hiromi Arakawa1,
Yoshie Kurata1, Mihyon Song1, Chikara Kihira1,2,
Seiji Kanazawa1,3, Satoko Fujita1
1
FMC Tokyo Clinic, Japan, 2Mie Chuo Medical Center, 3Tokyo
Metropolitan Tama Medical Center
1
Obstetrics and Gynecology, Nagasaki University, Japan,
Human Genetics, Nagasaki University
2
Wed(4)-P-297
Wed(4)-P-292
Pre-implantation genetic diagnosis for 2 spinal
muscular atrophy pedigrees in Japan
Sex determination of the fetus by noninvasive
prenatal testing (NIPT) with maternal blood
Hiroshi Senba, Kou Sueoka, Suguru Sato, Kataro Ino,
Mariko Suzuki, Yuki Mizuguchi, Yoko Izumi, Kenji Sato,
Akira Nakabayashi, Mamoru Tanaka
Yoshiteru Noda1,2, Haruki Nishizawa1, Takema Kato2,
Asuka Kambayashi1, Yuya Ouchi3, Sumire Terasawa1,2,
Jun Miyazaki1,2, Mayuko Ito1,2, Hiroki Kurahashi2,
Takuma Fujii1
Department of Obstetrics and Gynecology, Keio University
School of Medicine, Japan
1
Department of Obstetrics and Gynecology, Department of
Obstetrics and Gynecology, Fujita Health University School of
Medicine, Toyoake, Japan, 2Division of Molecular Genetics,
Institute for Comprehensive Medical Science, Fujita Health
University, Toyoake, Japan, 3Genome and Transcriptome
Analysis Center, Fujita Health University, Toyoake, Japan
Wed(4)-P-293
Normal ranges of plasma concentrations of
pregnancy-associated microRNAs during
pregnancy
Wed(4)-P-298
Yuko Murakami1, Kiyonori Miura1, Ai Higashigima1,
Naoki Fuchi1, Shuhei Abe1, Yuri Hasegawa1,
Atsushi Yoshida1, Masanori Kaneuchi1,
Kho-ichiro Yoshiura2, Hideaki Masuzaki1
Combination of gene mutation analysis and
tandem mass using amniotic fluid enhances the
accuracy of prenatal diagnosis of congenital
metabolic disorders
1
Departments of Obstetrics and Gynecology, Nagasaki
University Graduate School of Biomedical Sciences, Japan,
2
Department of Human Genetics, Nagasaki University
Graduate School of Biomedical Sciences
Hiroko Nakagami1, Akira Namba1, Akinori Miki1,
Shunsuke Tamaru1, Rei Niizawa1, Machiko Kimura1,
Taro Yamazaki2, Akira Ohtake2, Osamu Ishihara1,
Yoshimasa Kamei1
1
Saitama Medical University Hospital, Obstrics and
Gynecology, Japan, 2Saitama Medical University Hospital,
Pediatrician
278
Wed(4)-P-299
Ethical, Legal, Social and Policy Issues
in Genetics
Confined Placental Mosaicism among 1,326
CVSs, including Cases with Non-Mosaic
Aneuploidy with Euploidy Fetus
100 RECORDED INTERVIEWS WITH HUMAN
AND MEDICAL GENETICISTS
1
CRIFM Clinical Research Institute of Fetal Medicine PMC,
Japan, 2Ochanomizu University
Peter S. Harper
University Research Professor (Emeritus) in Human Genetics,
Institute of Medical Genetics, Cardiff University, School of
Medicine, UK
Wed(4)-P-300
Spinal Muscular Atrophy carrier analysis in
Thailand
Michael P Mackley1, Elizabeth Ormondroyd1,
Benjamin Fletcher2, Michael Parker3, Hugh Watkins1
1
Translational Medicine, Ramathibodi Hospital, Mahidol
University, Thailand, 2Internal Medicine, Ramathibodi Hospital,
Mahidol University, 3Research Center, Ramathibodi Hospital,
Mahidol University
1
Radcliffe Department of Medicine, University of Oxford,
UK, 2Nuffield Department of Primary Care Health Sciences,
University of Oxford, 3Nuffield Department of Population
Health, University of Oxford
Wed(4)-P-301
Accuracy of Prenatal Fast QF-PCR for
Aneuploidy Detection
Wed(4)-P-306
A genome cohort participants' genetic
knowledge and their needs to obtain their
genetic test results
Hiroyasu Ohashi1, Masayoshi Takeda1,
Ritsuko Kimata Pooh1,2, Mami Kumagai1,
Junpei Chikuma1, Risa Matsushika1, Misaki Yoshioka1,
Kentaro Itoh1
Kayono Yamamoto1,2, Tsuyoshi Hachiya2,
Naoki Nakatani3, Akira Okayama4, Kozo Tanno5,
Fumie Aizawa6, Tomoharu Tokutomi1,
Akimune Fukushima1, Atsushi Shimizu2
1
Clinical Laboratory, Ritz Medical Co., Ltd., Japan, 2CRIFM
Clinical Research Institute of Fetal Medicine PMC
1
Department of Clinical Genetics, School of Medicine, Iwate
Medical University, Japan, 2Department of Biomedical
Information Analysis, Iwate Tohoku Medical Megabank
Organization, 3Department of Community Based Cohort Study
Personalized Prevention and Epidemiology, Tohoku Medical
Megabank Organization, 4Research Institute of Strategy for
Prevention, 5Department of Clinical Research & Epidemiology,
Iwate Tohoku Medical Megabank Organization, 6Department
of Center for Liberal Arts and Sciences, School of Medicine,
Iwate Medical University
Wed(4)-P-302
Association of VEGF polymorphisms (-460T>C,
-7C>T, -583C>T) and haplotypes with the
idiopathic recurrent pregnancy loss in the
Korean population
Yong Wook Jung1, Eun Hee Ahn2, Gun Ho Lee3,
Jung Oh Kim4, Ki Han Ko4, Sung Hwan Cho4,
Hyungchul Rah4, Ki Wha Chung5, Ji Hyang Kim2,
Young Ran Kim2, Woo Sik Lee1,6, Nam Keun Kim4
Workshops
Stakeholder views on secondary findings in
whole-genome and whole-exome sequencing:
a systematic review
Wed(4)-P-305
Donniphat Dejsuphong1,
Aruchalean Taweewongsounton3,
Wasana Stitchantrakul3, Sermsiri Chitphuk3,
Pollawat Kemthong2, Atchara Tunteeratum2,
Piyamitr Sritara2, Thanyachai Sura2
Obstetrics and Gynecology, CHA University, Korea, South,
CHA Bundang Medical Center, 3CHA Gumi Medical Center,
4
College of Life Science, CHA University, 5College of Natural
Science, Kongju National University, 6Fertility Center of CHA
Gangnam Medical Center
2
Study of newspaper reports regarding Artificial
Intelligence and Genomics in Japan
Koichiro Yuji
Project Division of International Advanced Medical Research,
the Institute of Medical Science, the University of Tokyo,
Japan
Wed(4)-P-303
Evaluation of Group Genetic Counselling for
preimplantation genetic screening
Wed(4)-P-308
Incidentalome from Genomic Sequencing:
A Barrier to Personalised Medicine?
2
Genetics Department, Monash Health, Australia, Genetics
Department, Monash IVF
Saumya Jamuar1, Jiin Ying Lim1, Jyn Ling Kuan2,
Maggie Brett1, Bruno Reversades3, Ene Choo Tan1,
Roger Foo2
1
KK Women's and Children's Hospital, Singapore, 2Genome
Institute of Singapore, 3Institute of Medical Biology
279
Poster Session
Wed(4)-P-307
1
1
Plenary Lecture
Wed(4)-P-304
kayo Inoue1,2, Ritsuko Kimata Pooh1, Hideaki Chiyo1,
Takako Nakamura1
Amanda Springer1,2, Tenielle Davis2
April 6 (Wed.)
Program
ICHG2016
Wed(4)-P-309
Wed(4)-P-316
Tiered Protection to Share Health-Related Data?
Analysis of a new national policy for the
implementation of genome medicine in Japan
Stephanie OM Dyke, Edward S Dove,
Bartha M Knoppers
Jusaku Minari, Kazuto Kato
Human Genetics, McGill University, Canada
Wed(4)-P-310
Wed(4)-P-317
Views of Patients and Their Parents Regarding
the Incidental or Secondary Findings Obtained
from Whole Exome and Genome Sequencing:
a Literature Review
How to share the genetic information in the
electronic medical chart system protecting
privacy
Takeki Sugimoto1,3, Noriaki Nakajima2, Mari Tashiro1,
Toru Kubo1,4, Nobuo Ikenoue1,5, Chaiki Izumiya1,5,
Ichiro Yamasaki1,6, Kenji Tamura1,6, Kenshi Matsushita1,7,
Taisuke Kobayashi1,8, Shinichi Matsuoka9,
Maho Ogawa3, Toyokazu Oki3, Taro Shuin1,6
Akira Inaba1, Eriko Takamine1, Manami Matsukawa1,
Ayumi Yonei1, Hitomi Nishio1, Sayaka Honda1,
Yumie Hiraoka1, Shinji Kosugi2
1
Genetic Counselor Course, Kyoto University, School of
Public Health, Japan, 2Clinical Genetics Unit, Kyoto University
Hospital, Japan
1
Department of Medical Genetics and Genomics, Kitasato
University Graduate School of Medical Sciences, Japan
Clinical Genetics Department, Kochi Medical School Hospital,
Japan, 2Center of Medical Information Science, Kochi Medical
School, 3Breast Center, Kochi Medical School Hospital,
4
Department, Cardiology and Geriatrics, Neurology and
Geriatrics, Kochi Medical School, 5Department of Obstetrics
and Gyanecology, Kochi Medical School, 6Department of
Urology, Kochi Medical School, 7Department of Pediatrics,
Kochi Medical School, 8Department of Otolaryngology, Kochi
Medical School, 9Medical School and Hospital Administration
Department Medical Affairs Section, Kochi Medical School
Hospital
Wed(4)-P-312
Wed(4)-P-318
Evaluation of the management of incidental
findings in next-generation sequencing:
A questionnaire survey involving genetics
professionals
Revisions of Japanese Personal Data Protection
Laws and Challenges in Promoting Biomedical
Research Using Human Genetic/Genomic Data
Mio Tsuchiya, Shinji Kosugi
Wed(4)-P-311
The current regulatory landscape of genetic
tests for health-related purposes
Rei Fukuda, Fumio Takada
Natsuko Yamamoto, Kazuto Kato
Department of Medical Ethics and Genetics, School of Public
Health, Graduate School of Medicine, Kyoto University, Japan
Wed(4)-P-319
First year report of Kohnodai Hospital Biobank:
Construction of Biobank-coordinator workflow
Wed(4)-P-313
Informed Consent Issue in Genome Diversity
Research and Establishment of Genome Bank of
Different Ethnic Groups in China
Kumiko Suekuni1, Masaya Sugiyama1,2,
Tatsuya Kanto1,2, Masashi Mizokami1,2
1
Kohnodai Hospital, National Center for Global Health and
Medicine, Japan, 2The Research Center for Hepatitis and
Immunology, National Center for Global Health and Medicine
Jiayou Chu
Institute of Medical Biology, Chinese Academy of Medical
Sciences, China
Wed(4)-P-314
Points to consider in family health histories and
electronic health records
Howard P Levy1, Ingrid A Holm2, John J Mulvihill3
1
Medicine, Johns Hopkins University, USA, 2Pediatrics,
Harvard Medical School, 3Pediatrics, University of Oklahoma
Health Sciences Center
Wed(4)-P-315
Research findings from the bioethics survey
on genetic tests among Mongolian university
students
Hironao Numabe1, Garidkhuu Ariuntuul2
1
Department of Genetic Counselling, Ochanomizu University,
Japan, 2Graduate Training Center, Mongolian National
University of Medical Science
280

Wednesday, April 6 - ICHG2016 [The 13th International Congress of

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