Tay-Sachs Disease
Progressive neurological disorder affecting nerve cells, causing severe developmental regression and typically fatal by age 5. Most common in Ashkenazi Jewish populations with successful prevention programs.
Learn More →Gaucher Disease
Most common genetic disease affecting Ashkenazi Jews. Enzyme deficiency causing organ enlargement and bone problems. Type 1 is manageable with treatment and patients can live normal lives.
Learn More →BRCA Gene Mutations
Hereditary breast and ovarian cancer predisposition. Significantly higher rates in Ashkenazi Jewish women, with specific founder mutations conferring high cancer risk.
Learn More →Cystic Fibrosis
Affects lungs and digestive system with thick mucus production. Higher carrier rates in Ashkenazi Jewish populations. Modern treatments have significantly improved life expectancy.
Learn More →Familial Dysautonomia
Affects autonomic nervous system controlling vital functions like breathing, blood pressure, and temperature. Almost exclusively found in Ashkenazi Jewish population.
Learn More →Canavan Disease
Progressive brain disorder affecting white matter development. Causes severe developmental delays and shortened lifespan. Most common in Ashkenazi Jewish populations.
Learn More →Niemann-Pick Disease
Lipid storage disorder affecting multiple organ systems. Type A is most severe with neurological involvement, while Type B primarily affects organs without brain involvement.
Learn More →Bloom Syndrome
Rare genetic disorder characterized by short stature, sun sensitivity, and increased cancer risk. Primarily affects Ashkenazi Jewish populations with distinctive facial features.
Learn More →Fanconi Anemia
Inherited bone marrow failure syndrome with increased cancer risk and physical abnormalities. Higher frequency in Ashkenazi Jewish populations with specific mutations.
Learn More →Mucolipidosis Type IV
Lysosomal storage disorder affecting vision, development, and motor skills. Almost exclusively found in Ashkenazi Jewish populations with characteristic eye abnormalities.
Learn More →Beta-Thalassemia
Blood disorder affecting hemoglobin production, more common in Sephardic Jewish populations from Mediterranean regions. Causes anemia and organ complications.
Learn More →Glucose-6-Phosphate Dehydrogenase Deficiency
Enzyme deficiency causing hemolytic anemia when exposed to certain triggers. More common in Mizrahi Jewish populations from Middle Eastern regions.
Learn More →