Fulfilling Our Responsibility To The Next Generation

בס’’ד

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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)

The Dor Yeshorim mission: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.

A VITAL PROGRAM THAT SAVES LIVES!

NOW AVAILABLE:NEW PANEL Of TESTS fOR SEVEN AddITIONAL dEVASTATING ANd POTENTIALLy fATAL dISEASES

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THE dOR yESHORIM CuRRENT TESTING PANELDor 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

2. Cystic Fibrosis – Ashkenazic Mutations Cystic Fibrosis – Non-Ashkenazic Mutations

3. Familial Dysautonomia

4. Canavan Disease

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 PANEL10. 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.

dOR yESHORIM CONTINuES ITS VITAL WORKNew tests developed for SEVEN additional fatal and debilitating genetic diseasesDor 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.

The development of accurate and reliable tests for these mutations is a costly, pain-staking and time-consuming process.

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״ת enabled us to prevent additional devastating diseases that have affected many families in our Ashkenazi Jewish community.

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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 acu-ity. DY encountered several incidences of this disease in Ashkenazic Jewish families.

14. Joubert Syndrome (JBTS)JBTS is an autosomal recessive disorder character-ized 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 character-ized 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 usu-ally 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, hypo-tonia, seizures, irregular breathing, decreased level of consciousness, and neurological decline. DY encoun-tered 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!

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 muta-tion 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 metabo-lized. This causes accumulation of toxic byproducts. Symptoms include recurrent vomiting, episodes of ab-dominal pain and changes in consciousness, an enlarged liver, and neurological complications. DY has encoun-tered 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

fuRTHER INfORMATION REGARdING THE dISEASES INCLudEd IN THE NEW OPTIONAL TESTING PANEL:

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WHAT If OTHER GENETIC dISEASES HAVE ח״ו APPEAREd IN yOuR fAMILyWhat can you do to protect your healthy children?If a genetic disease has ח”ו appeared 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 ge-netic 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 3And more.

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 commu-nity, 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.

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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 iden-tify 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 communi-ty, Dor Yeshorim will בעזהשי”ת continue to meet the needs of the community with the goal of preventing the birth of children with serious genetic diseases.

dOR yESHORIM, THE PAST, THE PRESENT ANd THE fuTuRE...

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”ת to 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.

You may order the

OPTIONAL PANELof tests by calling our office at

718-486-8000 or 718-384-6060When 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.