Open AccessCarrier Screening for Cystic Fibrosis, Gaucher Disease, and Tay-Sachs Disease in the Ashkenazi Jewish Population
Author(s) -
David Kronn,
Valerie Jansen,
Harry Ostrer
Publication year - 1998
Publication title -
archives of internal medicine
Language(s) - English
Resource type - Journals
eISSN - 1538-3679
pISSN - 0003-9926
DOI - 10.1001/archinte.158.7.777
Subject(s) - tay sachs disease , cystic fibrosis , carrier testing , medicine , prenatal diagnosis , disease , newborn screening , population , pediatrics , pregnancy , fetus , genetics , environmental health , biology
By late 1993, the genes for cystic fibrosis and Gaucher disease and the mutations common among Ashkenazi Jews had been identified. In response to these advances, heterozygote screening for cystic fibrosis and Gaucher disease was added to the more than 20-year-old Tay-Sachs disease screening program at New York University Medical Center, New York, NY.
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