Jewish Genetic Diseases

There are a number of serious genetic diseases for which persons of Jewish heritage are more likely to be carriers than the general population.  Carriers are healthy individuals and are unaffected by the disease for which they were identified as carriers.. Two carriers of the same disease have a 1 in 4 risk with each pregnancy of having a child affected with the disease for which they were identified as carriers. Genetic screening, which can determine carrier status, is available. There are separate screening recommendations for Ashkenazi, Sephardic and Mizrahi Jews.

There are a number of diseases for which persons of Jewish heritage (at least one grandparent) are more likely to be carriers than the general population.

A carrier is not affected by the disease; however two carriers of the same disease have a 1 in 4 chance with each pregnancy of having a child affected by the disease (See Genetics and Carrier Screening).

These diseases are serious: fatal, life threatening or life-altering to the children born with them.

There are different genetic concerns for people of Ashkenazi Jewish background (Germany or Eastern Europe), and persons of Sephardic or Mizrahi Jewish background (Mediterranean, Iran/Persia or Middle Eastern).

Ashkenazi Diseases

Currently, carrier screening for 19 genetic diseases which affect persons of Ashkenazi Jewish heritage is available (see list below). With advances in genetics this list is likely to grow in the future.

Sephardic and Mizrahi Diseases

There is no single pre-conception screening panel for persons of Sephardic or Mizrahi Jewish background. Persons of Sephardic or Mizrahi background should discuss their own particular family heritage with a doctor or genetic counselor and be screened accordingly.

There are currently 16 genetic diseases that affect persons of Sephardic and Mizrahi Jewish heritage for which screening is available.  Screening recommendations are based on geographic origin.

Cystic Fibrosis and Spinal Muscular Atrophy

Screening for Cystic Fibrosis and Spinal Muscular Atrophy are recommended for persons of all backgrounds. We include them in both the Ashkenazi and Sephardic and Mizrahi disease lists.