Ashkenazi Jewish Genetic Diseases
- Bloom’s Syndrome (BS)
- 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 4 (ML4)
- Nemaline Myopathy
- Niemann-Pick Disease Type A
- Spinal Muscular Atrophy (SMA)
- Tay-Sachs Disease
- Usher Syndrome Type 3
- Usher Syndrome Type I
- Walker Warburg Syndrome (WWS)
Sephardic/Mizrahi Jewish Genetic Diseases
- Alpha-Thalassemia
- Ataxia Telangiectasia
- Beta-Thalassemia
- Corticosterone Methyloxidase Type II Deficiency
- Costeff Optical Atrophy
- Cystic Fibrosis (CF)
- Familial Creutzfeldt-Jakob Disease
- Familial Mediterranean Fever
- Familial Tumoral Calcinosis (Normophosphatemic Type)
- Glucose-6-Phosphate Dehydogenase Deficiency (G6PD)
- Inclusion Body Myopathy 2
- Limb Girdle Muscular Dystrophy Type 2B
- Metachromatic Leukodystrophy (MLD)
- Polyglandular Deficiency Syndrome
- Pseudocholinesterase Deficiency
- Spinal Muscular Atrophy (SMA)
- Wolman Disease
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.
