- Bloom’s syndrome
- Canavan disease
- Cystic Fibrosis (CF)
- Familial Dysautonomia (FD)
- Familial Hyperinsulinism
- Fanconi Anemia Type C
- Gaucher disease Type 1
- Glycogen Storage disorder Type 1a (GSD 1a)
- Joubert Syndrome Type 2
- Lipoamide Dehydrogenase deficiency (E3)
- Maple Syrup Urine disease (MSUD)
- Mucolipidosis type IV (ML IV)
- Nemaline Myopathy
- Niemann-Pick disease type A
- Spinal Muscular Atrophy (SMA)
- Tay-Sachs disease
- Usher syndrome Type I
- Usher syndrome Type III
- Walker Warburg Syndrome
Jewish Genetic Diseases
There are at least 19 Jewish Genetic Diseases more common in people of Ashkenazi Jewish descent and 1 in 5 Ashkenazi Jews is a carrier for at least one Jewish Genetic Disease.
These diseases are largely debilitating and potentially fatal, with limited treatment options and no known cures. However, through concerted and focused education, timely genetic counseling and genetic screening, these tragic diseases can be prevented in future generations, and lead to healthier children and families.
While more diseases may be added in the future, carrier screening and pre-natal diagnosis are presently available for these 19 Jewish Genetic Diseases with a single blood test.
In Development: Jews of Sephardic and Mizrahi Heritage
The JGDC is currently in the process of revising our educational materials, including this website, to cover genetic diseases of concern to persons of Sephardic (Mediterranean) and Mizrahi (Persian and Middle Eastern) Jewish heritage. If you are of Sephardic or Mizrahi heritage and are pregnant or considering starting a family in the near future, you should seek advice regarding appropriate genetic screening from your doctor, a genetic counselor, or a hospital-based genetics program.
