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Introduction to Jewish genetic diseases

Last updated: 2003-09-11

Medical research

In almost every ethnic, racial, or demographic group, certain genetic diseases occur at higher frequencies among their members than in the general population. Such is the case for the Jewish people.

The genetic diseases described in this area are disorders that occur more frequently in individuals of Ashkenazi Jewish ancestry, although with the exception of familial dysautonomia they may occur among individuals of other ethnic backgrounds as well. Most are severely incapacitating, and some are tragically debilitating, leading to death in infancy or early childhood.

This section provides an informative, up-to-date "fact sheet" on each of the most commonly described Ashkenazi Jewish genetic diseases. The specific nature of the genetic defect, major symptoms and disease course, diagnostic tests (including prenatal diagnosis and carrier detection), and available disease management and treatment are briefly presented for each disorder.

Bloom's Syndrome

Canavan Disease

Familial Dysautonomia

Fanconia Anemia

Gaucher Disease

Mucolipidosis IV

Niemann-Pick Disease

Tay-Sachs Disease

Torsion Dystonia

Information supplied by the Mount Sinai School of Medicine