Jewish Genetic Health and a Glimpse into the Future

1. Jewish Genetic Health and a Glimpse into the Future Susan Gross, MD Professor, Albert Einstein College of Medicine

2. GENETIC TESTING SUPPORT EDUCATION www.yu.edu/genetichealth

3. Recent ProgramsFor the Community and its Leadership • To Tell or Not to Tell: Issues Related to Family Health and Genetics (Keter Torah, Teaneck) • Cancer Risk in the Jewish population- Is it in Our Genes? (Temple ShaareyTefilah, Westchester) • Genetics on Campus (OU’s Jewish Learning Initiative on Campus) • Dealing with Genetic Health Issues in the Community, Before and After They Arise (Rebbetzin Esther Rosenblatt YarcheiKallah for Rebbetzins) • Campus screening events at YU/Stern and Einstein--and soon at Columbia and YU

4. Overview • Basics of genetics and inheritance • Jewish Genetic Diseases and carrier screening • Options for carrier couples • The future • Q & A

5. Basics of genetics and inheritance

8. Genetic “Typos” or Mutations • A few of these differences represent ‘Disease-Causing Mutations’ • Most minor changes reflect normal human variation

10. Jewish Genetic Diseases and carrier screening

11. Original population Marked population decrease, migration, or isolation Generations later Founder Effect • A high frequency of a specific gene mutation in a population founded by a small ancestral group

12. Timing of Mutations in Jewish Populations Ostrer H. Nat Rev Genet. 2001

13. Recessive Ashkenazi Jewish Genetic Diseases • Someone who is AFFECTED has no working copies of the specific gene • A carrier of a recessive genetic disease has one working copy, and one not-working copy of a particular gene. • Carriers are healthy. • Being a carrier is significant because for a couple where both partners are carriers of the same condition, there is a chance that they can have an affected child. carrier carrier carrier carrier carrier

14. Carrier

15. Affected

16. Carrier 50% chance of passing along the mutation during each pregnancy

17. “Not in Our Family”

18. Unaffected Carrier Carrier Affected Child Recessive Inheritance Father Mother

19. What are Jewish Genetic Diseases? (And Why?) • “Jewish Genetic Disease” is a misnomer • Carrier testing for Tay-Sachs began in the 1970s • We now test for many more disease than just Tay-Sachs disease • Specifically Ashkenazi Jewish • Testing is necessary in every generation since carriers are healthy no simple way to remove mutations from the gene pool ?

20. 1/127 1/4 > 90%

21. Options for carrier couples

22. Prenatal Diagnosis • Prenatal testing to identify an affected child • CVS/Amniocentesis • In-Vitro Fertilization with Preimplantation Genetic Diagnosis

23. Preimplantation Diagnosis Courtesy of Montefiore's Institute of Reproductive Medicine and Health Embryology Laboratory

24. The future

28. For further thought… • Other categories of Jewish Genetic Diseases • (other types of inheritance; other types of diseases) • New genetic technology • Slippery slope (e.g., new PGD applications)

29. Questions?