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.
She has been involved in research for the Center for Genomics and Systems Biology of New York University, in the area of in vitro embryonic development, as well as the Human Genetics Lab of the Jacobi Medical Center, in the area of Jewish genetic diseases.
NEW YORK -- In response to alarming new data that only six percent of the American Jewish population is aware of Gaucher (Pronounced "Go-shay") disease -- the most common Jewish genetic disease - the National Gaucher Foundation (NGF) today kicked-off the National Gaucher Awareness Month with the "September Summit" at the Manhattan Jewish Community Center.
Tay-Sachs, the most commonly recognized Jewish genetic disease, was the first for which carrier screening became available in the early 1970s.
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.
MOMENT'S UPDATED LISTING OF JEWISH GENETIC DISEASES IS AVAILABLE AT MOMENTMAG.
Jewish genetic diseases may be rare individually, but in aggregate they are distressingly common.
The recent ACOG Genetics Committee Opinion recommends that obstetricians inform couples of Ashkenazi Jewish descent about the availability of carrier screening for additional Jewish genetic diseases," says Robert J.
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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