Susan Gross, MDProfessor, Albert Einstein

College of Medicine

Jewish Genetic Health and a Glimpse into the Future

GENETIC TESTING EDUCATION SUPPORT

www.yu.edu/genetichealth

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 Shaarey Tefilah, 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 Yarchei Kallah for Rebbetzins)

Campus screening events at YU/Stern and Einstein--and soon at Columbia and YU

Basics of genetics and inheritance

Jewish Genetic Diseases and carrier screening

Options for carrier couples

The future

Q & A

Overview

Basics of genetics and inheritance

Genetic “Typos” or Mutations

A few of these differences represent ‘Disease-Causing Mutations’

Most minor changes reflect normal human variation

Jewish Genetic Diseases and carrier screening

A high frequency of a specific gene mutation in a population founded by a small ancestral

group

Founder Effect

Original population

Marked population decrease,

migration, or isolation

Generations later

Timing of Mutations in Jewish Populations

Ostrer H. Nat Rev Genet. 2001

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.

Recessive Ashkenazi Jewish Genetic Diseases

carrier carriercarrier

carriercarrier

Carrier

Affected

Carrier

50% chance of passing along the mutation during each pregnancy

“Not in Our Family”

Affected Child

Recessive Inheritance

Father Mother

Unaffected Carrier Carrier

“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

What are Jewish Genetic Diseases? (And Why?)

?

1/4 > 90%

1/127

Options for carrier couples

Prenatal Diagnosis

Prenatal testing to identify an affected child◦ CVS/Amniocentesis

In-Vitro Fertilization with Preimplantation Genetic Diagnosis

Preimplantation Diagnosis

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

The future

Other categories of Jewish Genetic Diseases◦(other types of inheritance; other types of diseases)

New genetic technology◦Slippery slope (e.g., new PGD applications)

For further thought…

Questions?