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Jewish Genetic Health and a Glimpse into the Future. Susan Gross, MD Professor, Albert Einstein College of Medicine. GENETIC TESTING. SUPPORT. EDUCATION. www.yu.edu/genetichealth. Recent Programs For the Community and its Leadership.

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jewish genetic health and a glimpse into the future

Jewish Genetic Health and a Glimpse into the Future

Susan Gross, MD

Professor, Albert Einstein College of Medicine

slide2

GENETIC TESTING

SUPPORT

EDUCATION

www.yu.edu/genetichealth

recent programs for the community and its leadership
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
overview
Overview
  • Basics of genetics and inheritance
    • Jewish Genetic Diseases and carrier screening
  • Options for carrier couples
  • The future
  • Q & A
genetic typos or mutations
Genetic “Typos” or Mutations
  • A few of these differences represent ‘Disease-Causing Mutations’
  • Most minor changes reflect normal human variation
slide11

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
timing of mutations in jewish populations
Timing of Mutations in Jewish Populations

Ostrer H. Nat Rev Genet. 2001

recessive ashkenazi jewish genetic diseases
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

carrier1
Carrier

50% chance of passing along the mutation

during each pregnancy

slide18

Unaffected

Carrier

Carrier

Affected Child

Recessive Inheritance

Father

Mother

what are jewish genetic diseases and why
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

?

slide20

1/127

1/4

> 90%

prenatal diagnosis
Prenatal Diagnosis
  • Prenatal testing to identify an affected child
    • CVS/Amniocentesis
  • In-Vitro Fertilization with Preimplantation Genetic Diagnosis
slide23

Preimplantation Diagnosis

Courtesy of Montefiore's Institute of Reproductive Medicine and Health Embryology Laboratory

for further thought
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)