Nineteen Genetic Diseases That Ashkenazi Jews Need to Know About
Автор: Rare Disease Report
Загружено: 2013-10-22
Просмотров: 58256
Ashkenazi Jews are very susceptible to genetic diseases. In fact, 1 in 4 Jews is a carrier for at least 1 of 19 preventable Jewish genetic diseases. Among those diseases are Tay-Sachs disease, Gaucher disease, and familial dysautonomia. In this exclusive interview with Rare Disease Report, Dr. Adele Schneider, the medical director of the Victor Center explains these three diseases and why it is important for young Jewish adults to be screened. The 19 genetic diseases the Victor Center can screen for include:
Bloom Syndrome (approx 1 in 100 Ashkenazi Jews)
Canavan Disease (1 in 4-57)
Cystic fibrosis (1 in 26)
Dihydrolipoamide Dehydrogenase Deficiency (DLD) (1 in 96)
Familial Dysautonomia (FD) (1 in 30)
Familial Hyperinsulinism (FHI) (1 in 66)
Fanconi Anemia Type C (1 in 89)
Gaucher Disease Type 1 (1 in 15)
Glycogen Storage Disease Type 1A (1 in 71)
Joubert Syndrome (1 in 92)
Maple Syrup Urine Disease (MSUD) (1 in 81)
Mucolipodosis IV (1 in 122)
Nemaline Myopathy (1 in 149)
Niemann-Pick Disease Type A (1 in 90)
Spinal Muscular Atrophy (1 in 41)
Tay-Sachs Disease (1 in 25)
Usher Syndrome Type 1F (1 in 141)
Usher Syndrome type III (1 in 107)
Walker-Warburg Syndrome (1 in 122)
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