susan gross, md professor, albert einstein college of medicine
TRANSCRIPT
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Susan Gross, MDProfessor, Albert Einstein
College of Medicine
Jewish Genetic Health and a Glimpse into the Future
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GENETIC TESTING EDUCATION SUPPORT
www.yu.edu/genetichealth
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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
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Basics of genetics and inheritance
Jewish Genetic Diseases and carrier screening
Options for carrier couples
The future
Q & A
Overview
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Basics of genetics and inheritance
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Genetic “Typos” or Mutations
A few of these differences represent ‘Disease-Causing Mutations’
Most minor changes reflect normal human variation
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Jewish Genetic Diseases and carrier screening
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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
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Timing of Mutations in Jewish Populations
Ostrer H. Nat Rev Genet. 2001
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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
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Carrier
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Affected
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Carrier
50% chance of passing along the mutation during each pregnancy
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“Not in Our Family”
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Affected Child
Recessive Inheritance
Father Mother
Unaffected Carrier Carrier
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“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?)
?
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1/4 > 90%
1/127
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Options for carrier couples
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Prenatal Diagnosis
Prenatal testing to identify an affected child◦ CVS/Amniocentesis
In-Vitro Fertilization with Preimplantation Genetic Diagnosis
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Preimplantation Diagnosis
Courtesy of Montefiore's Institute of Reproductive Medicine and Health Embryology Laboratory
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The future
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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…
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Questions?