Jewish Genetic Diseases

Ashkenazi Jewish Genetic Diseases

Ethnic groups around the world are known to have an increased risk of particular genetic diseases.  Likewise, Jewish individuals of Eastern European (Ashkenazi) background have a higher risk than others of certain diseases, for example Tay-Sachs, Canavans Disease, Cystic Fibrosis, Familial Dysautonomia, Fanconi Anemia Group C, Niemann-Pick Disease Type A, Mycolipidosis IV, Bloom Syndrome, Gaucher Disease and many more.  Most of these are due to autosomal recessive inheritance.  There are additional genetic disorders which have a higher frequency in the Jewish population and which are related to dominant disease predisposition genes such as the BRCA1 and BRCA2 genes, which are associated with an increased risk for breast and ovarian cancer.

Sephardic/Mizrachi Jewish Genetic Diseases

Sephardic Jews face different genetic disorders based on their country of origin. Diseases such as Beta Thalassamia, Familial Mediterranean Fever, G6PD Deficiency and Wolman Disease is only a partial list (but most commonly found) in Jews of North African, Middle Eastern, Italian, Persian or Iraqi descent.  Potential parents are highly encouraged to seek out genetic counseling to discuss testing options for their particular situations.

Jews of Choice and Non-Jewish Partners of Jewish Individuals

Our extended Jewish Community are also at risk for genetic diseases. It is important that couples be screened to ensure that carrier couples are identified as the genes babies inherit from their parents pass along family characteristics like hair and eye color. Sometimes they also pass on genetic diseases, even if the parents don’t have any symptoms. If two people are carriers for the same condition, there’s a twenty five percent chance their children could be affected by this disease.

For a full list of the diseases that we screen for, click on image below: