Dr. Neil Risch Speaks About Genetic Disease and the Jewish Population

By Bonnie Lindauer

Why are genetic diseases found in Ashkenzai Jews?   Because Ashkenazim constitute a distinct genetic subgroup which  is likely due to genetic drift and endogamy (mating within the genetic subgroup) over the past 1000+ years.  Are all Jewish genetic diseases  recessive? No, but most are.  These questions and many others were addressed by Dr. Neil Risch, the director of the Human Genetics Institute at UCSF and the Lamond Family Foundation Distinguished Professor, at his March 17th talk, sponsored by Sisterhood.

Neil provided background information about the genetics of Ashkenazim and the history of certain recessive lysosomal storage diseases.  He stressed how the 3,000+ year history of the Jewish people has been one of expansions and contractions, separations, migrations and coalescence, leaving a mark through the genetic profiles of contemporary Jewish communities.   Many different studies have confirmed that among European/Middle Eastern populations, Ashkenazim are genetically most similar to Eastern Mediterranean populations, such as Greeks and Southern Italians.  Among his several conclusions are these two:

  • a wide variety of genetic diseases occur in the Ashkenazi population; many are recessive, but some are dominant, consistent with genetic drift rather than selection;
  • the Ashkenazi Jewish population is known to have a number of genetic diseases at uniquely increased frequency, prominent among these are Tay-Sachs Disease, Gaucher Disease, Niemann-Pick Disease, and Mucolipidosis Type IV, Primary Torsion Dystonia, BRCAI and BRCA2 (breast cancers), and Familial Hypercholesterolemia.

Sisterhood thanks Neil for sharing his expertise and for taking the time to answer additional questions during the wine and cheese reception after the talk.  We also thank the anonymous donor who matched the money raised at this event.


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