Jewish genetic disease

Jewish genetic disease

Any genetic disease that is more common in Jewish populations, especially the Ashkenazi subgroup, due to high rates of endogamy. Most are autosomal recessive and present in childhood. The American College of Medical Genetics recommends routine pre-conceptual or prenatal carrier screening for 9 diseases (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anaemia group C, Gaucher disease, mucolipidosis IV, Niemann-Pick disease type A and Tay-Sachs disease), which are common in Jews of eastern European (Ashkenazi) descent. 

Jewish (Ashkenazim) Genetic Diseases
Disease—Incidence—Carrier rate
Gaucher disease—1/900—1/15
Cystic fibrosis—1/2,800—1/29
Tay-Sachs disease—1/3,000—1/30
Familial dysautonomia—1/3,600—1/32
Canavan disease—1/10,000—1/50
Fanconi anemia group C—1/32,000—1/89
Niemann-Pick, type A—1/32,000—1/90
Bloom syndrome—1/40,000—1/100
Mucolipidosis IV—1/63,000—1/127
References in periodicals archive ?
The most known Jewish genetic disease is Tay-Sachs, caused by a deficiency of the enzyme hexosaminidase A.
Tay-Sachs, the most commonly recognized Jewish genetic disease, was the first for which carrier screening became available in the early 1970s.
The studies of Jewish genetics discussed in this paper generally fall into two categories: inquiries into Jewish genetic diseases, and those that seek to confirm or deny Jewish oral tradition.
But labs that focus on Jewish genetic diseases screen for about nineteen disorders and as many as thirty-eight, with the number continuing to rise.
This app was produced by the DNA Learning Center, and was developed with support from the Marcus Foundation in partnership with the Victor Center for the Prevention of Jewish Genetic Diseases, Albert Einstein Healthcare Network, Philadelphia, U.S.
MOMENT'S UPDATED LISTING OF JEWISH GENETIC DISEASES IS AVAILABLE AT MOMENTMAG.COM/GENETICS
Ashkenazi Jewish Genetic Diseases. Albert Einstein Health Care Network.
So are irritable bowel syndrome and inflammatory bowel disease (IBD), writes Ernest Abel, professor of obstetrics and gynecology at Wayne State University and author of Jewish Genetic Diseases: A Layman's Guide.
Why do you hear so much about Jewish genetic diseases? As an inbred group, we are the ideal subset of society for geneticists to study.
Jewish genetic diseases may be rare individually, but in aggregate they are distressingly common.
And for some researchers, the question of "who is a genetic Jew" is less important than "who has Jewish genetic diseases," since a major part of what Jews think about in terms of their genes involves Canavan, Gaucher, and Tay-Sachs diseases, and risk factors such as BRCA, a genetic mutation linked to breast cancer.

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