בס’’ד Fulfilling Our Responsibility To The Next Generation A VITAL PROGRAM THAT SAVES LIVES! The Dor Yeshorim mission: For over 30 years, Dor Yeshorim has successfully prevented the occurrence of genetic diseases in our NOW AVAILABLE: families. Since 1983, Dor Yeshorim with Hashem’s help NEW PANEL OF TESTS has successfully prevented genetic diseases from affecting our Jewish Community by conducting mass screenings in high schools, colleges, universities, FOR SEVEN ADDITIONAL yeshivas and seminaries worldwide- throughout the United States, Israel, Canada, Europe, and countless other orthodox Jewish communities. DEVASTATING AND The Dor Yeshorim genetic screening program was established to provide protection from Jewish genetic diseases, while safeguarding individuals from the potentiallY FatAL psychological stigma associated with knowing their carrier status. DISEASES To date, approximately 375,000 individual genetic screening tests have been performed, and nearly 2,000 potential couples have been spared the List of Diseases: agony of giving birth to a child or children with a 1. Bardet–Biedl Syndrome Type 2 (BBS2) devastating or fatal genetic disease. The birth of a sick child not only impacts the parents of this child 2. Nemaline Myopathy (NM) but also the siblings, grandpare nts and the extended 3. Dihyrolipoamide Dehydrogenase Deficiency (DLDD) family. B’H Dor Yeshorim has been able to spare over 4. Usher Syndrome Type 1 (USH1) 2,000 families the hardships associated with having such a child. 5. Joubert Syndrome (JBTS) DY benefits from ongoing collaborations with the 6. Walker-Warburg Syndrome (WWS) world’s leading geneticists. 7. Maple Syrup Urine Disease Type 1B (MSUD1B) 2 3 DOR YESHORIM CONTINUES THE DOR Yeshorim ITS VITAL WORK CURRENT TESTING PANEL New tests developed for SEVEN additional fatal and Dor Yeshorim now routinely screens for the following debilitating genetic diseases potentially fatal and severely debilitating genetic Dor Yeshorim continues its efforts to decrease the diseases commonly found in the Ashkenazic Jewish incidence of devastating and potentially fatal genetic community: diseases through its ongoing research into genetic 1. Tay Sachs – Ashkenazic Mutations diseases that affect the Jewish community. Tay Sachs – Sefardic Mutations The development of accurate and reliable tests for 2. Cystic Fibrosis – Ashkenazic Mutations these mutations is a costly, pain-staking and time- Cystic Fibrosis – Non-Ashkenazic Mutations consuming process. 3. Familial Dysautonomia Today, we are grateful to be able to respond to the 4. Canavan Disease pleas of many in the community and announce that scientific technological advancements, in conjunction 5. Glycogen Storage Disease Type I enabled 6. Bloom Syndrome בעזהשי״ת with our extensive research, have us to prevent additional devastating diseases that 7. Fanconi Anemia Type C have affected many families in our Ashkenazi Jewish community. 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. 4 5 ear (vestibular) abnormalities. Affected children develop FUrther INFormation 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 regARDING THE DISEASES Ashkenazic Jewish families. 14. Joubert Syndrome (JBTS) INCLUDED IN THE NEW JBTS is an autosomal recessive disorder character- ized by a distinctive brain malformation visible on MRI examination, low muscle tone, abnormal breathing optional TESTING PANEL: pattern, and developmental delay. Additional features may include abnormal eye movement, abnormal gait, mental retardation, vision problems, extra fingers and/ 10. Bardet-Biedl Syndrome Type 2 (BBS2) or toes, and kidney disease. DY played a significant role BBS2 is an autosomal recessive disorder characterized by in this gene discovery after several families sought DY’s mild to moderate mental retardation, pigmentation of assistance. the retina with progressive deterioration of vision, kidney failure, obesity, limb malfunction and extra digits on the 15. Walker-Warburg Syndrome (WWS) hands and/or feet. While it was originally believed to be WWS is an autosomal recessive disorder character- found only in the Bedouin population, DY’s efforts have ized by muscular weakness present at birth, along enabled the detection of two BBS2-causing mutations in with severe brain and eye abnormalities. The surface the Ashkenazi community. of the brain is abnormally smooth (lissencephaly), the cerebellum and brainstem are underdeveloped, and 11. Nemaline Myopathy (NM) most infants have water on the brain (hydrocephalus). NM is an autosomal recessive neuromuscular disorder Congenital cataracts and retina malformations are usu- characterized by muscle weakness, especially in the ally also present. Severe developmental delay ensues, face, neck and limbs, low muscle tone, and depressed and most affected children die in early childhood. or absent tendon reflexes. The disease usually presents Upon encountering several incidences of this disease in infancy, and muscle biopsies reveal the presence of in Ashkenazic Jewish families, DY determined that this nemaline bodies. DY found the Ashkenazic Jewish muta- disease occurs in the Ashkenazi community at a higher tion after several families sought assistance. frequency than initially believed. 12. Dihydrolipoamide Dehydrogenase Deficiency 16. Maple Syrup Urine Disease Type 1B (MSUD1B) (DLDD) MSUD1B is an autosomal recessive disorder of amino DLDD- also known as Maple Syrup Urine Disease Type 3 acid metabolism which usually presents at or several and E3 deficiency, is an autosomal recessive metabolic days after birth. From early infancy, symptoms include disorder in which protein cannot be properly metabo- poor feeding, vomiting, dehydration, lethargy, hypo- lized. This causes accumulation of toxic byproducts. tonia, seizures, irregular breathing, decreased level of Symptoms include recurrent vomiting, episodes of ab- consciousness, and neurological decline. DY encoun- dominal pain and changes in consciousness, an enlarged tered several incidences of this disease in Ashkenazic liver, and neurological complications. DY has encoun- Jewish families. 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 13. Usher Syndrome Type 1 (USH1) testing for these diseases. THEY DO OCCUR IN OUR USH1 is an autosomal recessive disorder characterized COMMUNITY. Families are suffering from these diseases, by profound congenital bilateral deafness, progressive often silently and tragically – they do not talk about it – vision abnormalities, and balance problems due to inner that is why you do not know about them! 6 7 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 WHAT IF OTHER GENETIC DISEASES APPEARED IN YOUR FAMILY ח״ו every test presently on the market meets these criteria. HAVE What can you do to protect your healthy children? ,appeared in your family ח”ו If a genetic disease has 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 3 And more. 8 9 WILL ADDITIONAL TESTS BE DOR YESHORIM, ADDED IN THE FUTURE? What is the goal of Dor Yeshorim? THE PAST, 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 THE PRESENT upon the severity of symptoms, test reliability, carrier frequency and available therapies for the disease. AND THE FUTURE... to ultimately eradicate בעזהשי”ת It is the goal of