Fulfilling Our Responsibility To The Next Generation

‫בס’’ד‬
Fulfilling Our Responsibility To The Next Generation
A VITAL PROGRAM THAT
SAVES LIVES!
The Dor Yeshorim mission:
NOW AVAILABLE:
New panel of tests
for seven additional
devastating and
potentially fatal
diseases
List of Diseases:
1. Bardet–Biedl Syndrome Type 2 (BBS2)
2. Nemaline Myopathy (NM)
3. Dihyrolipoamide Dehydrogenase Deficiency (DLDD)
4. Usher Syndrome Type 1 (USH1)
5. Joubert Syndrome (JBTS)
6. Walker-Warburg Syndrome (WWS)
7. Maple Syrup Urine Disease Type 1B (MSUD1B)
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For over 30 years, Dor Yeshorim has successfully
prevented the occurrence of genetic diseases in our
families.
Since 1983, Dor Yeshorim with Hashem’s help
has successfully prevented genetic diseases from
affecting our Jewish Community by conducting mass
screenings in high schools, colleges, universities,
yeshivas and seminaries worldwide- throughout the
United States, Israel, Canada, Europe, and countless
other orthodox Jewish communities.
The Dor Yeshorim genetic screening program was
established to provide protection from Jewish genetic
diseases, while safeguarding individuals from the
psychological stigma associated with knowing their
carrier status.
To date, approximately 375,000 individual genetic
screening tests have been performed, and nearly
2,000 potential couples have been spared the
agony of giving birth to a child or children with a
devastating or fatal genetic disease. The birth of a
sick child not only impacts the parents of this child
but also the siblings, grandpare nts and the extended
family. B’H Dor Yeshorim has been able to spare over
2,000 families the hardships associated with having
such a child.
DY benefits from ongoing collaborations with the
world’s leading geneticists.
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DOR YESHORIM CONTINUES
ITS VITAL WORK
The Dor Yeshorim
Current Testing Panel
New tests developed for SEVEN additional fatal and
debilitating genetic diseases
Dor Yeshorim continues its efforts to decrease the
incidence of devastating and potentially fatal genetic
diseases through its ongoing research into genetic
diseases that affect the Jewish community.
Dor Yeshorim now routinely screens for the following
potentially fatal and severely debilitating genetic
diseases commonly found in the Ashkenazic Jewish
community:
1. Tay Sachs – Ashkenazic Mutations
Tay Sachs – Sefardic Mutations
The development of accurate and reliable tests for
these mutations is a costly, pain-staking and timeconsuming process.
2. Cystic Fibrosis – Ashkenazic Mutations
Cystic Fibrosis – Non-Ashkenazic Mutations
Today, we are grateful to be able to respond to the
pleas of many in the community and announce that
scientific technological advancements, in conjunction
with our extensive research, have ‫ בעזהשי״ת‬enabled
us to prevent additional devastating diseases that
have affected many families in our Ashkenazi Jewish
community.
4. Canavan Disease
3. Familial Dysautonomia
5. Glycogen Storage Disease Type I
6. Bloom Syndrome
7. Fanconi Anemia Type C
8. Neimann Pick
9. Mucolipidosis Type IV
The Dor Yeshorim
New Optional Testing Panel
10. Bardet–Biedl Syndrome Type 2 (BBS2)
11. Nemaline Myopathy (NM)
12. Dihyrolipoamide Dehydrogenase Deficiency
(DLDD)
13. Usher Syndrome Type 1 (USH1)
14. Joubert Syndrome (JBTS)
15. Walker-Warburg Syndrome (WWS)
16. Maple Syrup Urine Disease Type 1B (MSUD1B)
Please be aware of the following: The DY program
checks carrier status for numerous genetic diseases,
but it cannot detect undetermined/unknown genetic
diseases which may occur as a result of marriage
between relatives.
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Further information
regarding the diseases
included in the new
optional testing panel:
10. Bardet-Biedl Syndrome Type 2 (BBS2)
BBS2 is an autosomal recessive disorder characterized by
mild to moderate mental retardation, pigmentation of
the retina with progressive deterioration of vision, kidney
failure, obesity, limb malfunction and extra digits on the
hands and/or feet. While it was originally believed to be
found only in the Bedouin population, DY’s efforts have
enabled the detection of two BBS2-causing mutations in
the Ashkenazi community.
11. Nemaline Myopathy (NM)
NM is an autosomal recessive neuromuscular disorder
characterized by muscle weakness, especially in the
face, neck and limbs, low muscle tone, and depressed
or absent tendon reflexes. The disease usually presents
in infancy, and muscle biopsies reveal the presence of
nemaline bodies. DY found the Ashkenazic Jewish mutation after several families sought assistance.
12. Dihydrolipoamide Dehydrogenase Deficiency
(DLDD)
DLDD- also known as Maple Syrup Urine Disease Type 3
and E3 deficiency, is an autosomal recessive metabolic
disorder in which protein cannot be properly metabolized. This causes accumulation of toxic byproducts.
Symptoms include recurrent vomiting, episodes of abdominal pain and changes in consciousness, an enlarged
liver, and neurological complications. DY has encountered several incidences of this disease in Ashkenazic
Jewish families.
13. Usher Syndrome Type 1 (USH1)
USH1 is an autosomal recessive disorder characterized
by profound congenital bilateral deafness, progressive
vision abnormalities, and balance problems due to inner
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ear (vestibular) abnormalities. Affected children develop
night blindness, which eventually progresses to loss of
peripheral vision (tunnel vision) and to decreased acuity. DY encountered several incidences of this disease in
Ashkenazic Jewish families.
14. Joubert Syndrome (JBTS)
JBTS is an autosomal recessive disorder characterized by a distinctive brain malformation visible on MRI
examination, low muscle tone, abnormal breathing
pattern, and developmental delay. Additional features
may include abnormal eye movement, abnormal gait,
mental retardation, vision problems, extra fingers and/
or toes, and kidney disease. DY played a significant role
in this gene discovery after several families sought DY’s
assistance.
15. Walker-Warburg Syndrome (WWS)
WWS is an autosomal recessive disorder characterized by muscular weakness present at birth, along
with severe brain and eye abnormalities. The surface
of the brain is abnormally smooth (lissencephaly), the
cerebellum and brainstem are underdeveloped, and
most infants have water on the brain (hydrocephalus).
Congenital cataracts and retina malformations are usually also present. Severe developmental delay ensues,
and most affected children die in early childhood.
Upon encountering several incidences of this disease
in Ashkenazic Jewish families, DY determined that this
disease occurs in the Ashkenazi community at a higher
frequency than initially believed.
16. Maple Syrup Urine Disease Type 1B (MSUD1B)
MSUD1B is an autosomal recessive disorder of amino
acid metabolism which usually presents at or several
days after birth. From early infancy, symptoms include
poor feeding, vomiting, dehydration, lethargy, hypotonia, seizures, irregular breathing, decreased level of
consciousness, and neurological decline. DY encountered several incidences of this disease in Ashkenazic
Jewish families.
Even if you have never heard of the seven diseases
in the new Dor Yeshorim panel, you need to consider
testing for these diseases. THEY DO OCCUR IN OUR
COMMUNITY. Families are suffering from these diseases,
often silently and tragically – they do not talk about it –
that is why you do not know about them!
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WHY IS THIS TESTING OPTIONAL?
If these diseases are affecting our communities, why
is testing optional?
The new panel contains seven additional diseases
that are less common, but they do exist in our
community and the families affected are suffering
terribly. While each individual and family need to
decide if they want to take advantage of the new
testing panel, it is advisable and recommended that
people be screened, to ensure that their future family
will not be affected.
What determines if a disease
will be on the dy panel?
What are the criteria for choosing which genetic
diseases should be tested?
Dor Yeshorim only selects tests for genetic diseases that
are recessive, frequently occurring in the Jewish community, devastating and/or fatal. In addition, tests added
to the Dor Yeshorim testing panel must be reliable. Not
every test presently on the market meets these criteria.
WHAT IF OTHER GENETIC DISEASES
HAVE ‫ ח״ו‬APPEARED IN YOUR FAMILY
What can you do to protect your healthy children?
If a genetic disease has ‫ ח”ו‬appeared in your family,
contact our office for additional information,
screening, counseling and medical referrals.
Reaching out for assistance will help assure that
healthy siblings can safely marry without fear of
reoccurrence of the disease. All information will be
held strictly confidential. Protecting your family’s
emotional health is of utmost importance to us, just
as it is our goal to protect your family from being
affected by devastating genetic diseases.
We presently have the ability to screen for additional genetic diseases that are not currently part of DY’s regular
panel and the new optional panel.
For example:
• Various forms of genetically caused deafness.
• Various forms of genetically caused blindness.
• Usher Syndrome Type 3
And more.
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WILL ADDITIONAL TESTS BE
ADDED IN THE FUTURE?
What is the goal of Dor Yeshorim?
As tests for other fatal and/or debilitating diseases
become available, they are reviewed by DY’s medical
and rabbinical advisory boards. Decisions are based
upon the severity of symptoms, test reliability, carrier
frequency and available therapies for the disease.
It is the goal of DY ‫ בעזהשי”ת‬to ultimately eradicate
fatal and severely debilitating recessive genetic
diseases from the Jewish community.
How can you help Dor Yeshorim accomplish its
goal of eliminating recessive genetic diseases in the
Jewish community?
Dor Yeshorim has B’H been able to protect thousands
of families from having to deal with the extreme
challenges of caring for children with serious
genetic diseases. While Dor Yeshorim has been very
successful at preventing the more common diseases,
there are still genetic diseases that exist in the Jewish
community whose genetic cause in not known, or the
testing is not reliable. Identifying the genetic basis
for these diseases and finding the reliable test is
critical to helping to prevent the occurrence of these
diseases. Dor Yeshorim has B’H been successful in
finding the genetic basis for many of the diseases,
but work needs to be done to identify the genetic
basis for additional genetic diseases. This effort
is a challenging, time-consuming and expensive
undertaking. Dor Yeshorim needs your help to fund
these research projects. With your help, Dor Yeshorim
will be able to protect the Jewish community from
having children with these diseases.
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DOR YESHORIM,
THE PAST,
THE PRESENT
AND THE FUTURE...
Dor Yeshorim’s efforts, which began 30 years ago, have to
date met the needs of close to 400,000 orthodox Jewish
young men and women who get married knowing that
they do not need to be concerned about having children
with any of the common Jewish genetic disease. If not for
Dor Yeshorim’s efforts, thousands of families would be
dealing with the physical and psychological challenges
and trauma associated with having such a child. Dor
Yeshorim has been at the forefront in the research to identify the genetic causes of diseases in the Jewish population
as well as the development of therapies for individuals
with genetic disorders. With the support of the community, Dor Yeshorim will ‫ בעזהשי”ת‬continue to meet the needs
of the community with the goal of preventing the birth of
children with serious genetic diseases.
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You may order the
OPTIONAL PANEL
of tests by calling our office at
718-486-8000 or 718-384-6060
When calling, please be sure to
have the ID# and the date of birth of
the individual that is to be tested.
A new blood sample is
usually not required.