What Are Jewish Genetic Disorders?
 Intro to Genetics
 Ashkenazi Disorders
 Sephardic Disorders
 Jewish Genetics Disorders Stories
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Ashkenazi Disorders


Bloom's Syndrome  |  Canavan Disease  |  Cystic Fibrosis   |  Factor XI Deficiency  |  Familial Dysautonomia  |  Fanconi Anemia  |  Gaucher Disease  |  Glycogen Storage Disease, Type I  |  Mucolipidosis IV  |  Maple Syrup Urine Disease  |  Niemann-Pick Disease  |  Nonclassical Adrenal Hyperplasia  |  Nonsyndromic Hearing Loss and Deafness  |  Tay-Sachs Disease  |  Torsion Dystonia

Above are fifteen disorders that stem from single-gene mutations found most frequently in Jews of Central and Eastern European descent. Many are serious and can be debilitating and life-shortening. Each page describes the causes, symptoms, treatment or support options and specialty organization information for each condition. Please note that there is no set panel of Jewish genetic disorders, and different labs screen for a different number of them. The most current recommendation comes from the American College of Medical Genetics (ACMG), and suggests screening for nine specific disorders, with the consideration of other disorders that have significant morbidity/mortality and a high detection rate. The Chicago Center for Jewish Genetic Disorders offers carrier screening for these nine disorders through its Education and Screening programs.

We encourage prospective parents to meet with a genetic counselor to discuss testing options, in order to make the best health care decisions for their families. Find counseling services in the Chicago area or nationwide.

Related blog post: What if we're not both Ashkenazi? If only one member of a couple is Ashkenazi Jewish, or if one member has one Jewish parent, what does this mean for his or her chances of being a carrier for a Jewish genetic disorder?

See also: Intermarriage Spurs Tay-Sachs Advisory, The Jewish Daily Forward, August 11, 2010
Citing rising Jewish intermarriage rates, the leading organization devoted to combating Tay-Sachs is urging doctors to encourage the use of more comprehensive testing methodology to identify carriers of the deadly genetic disease.

  
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