What are “Jewish” genetic disorders?

The “Jewish” genetic disorders are a group of conditions which are unusually common among Jews of eastern European (Ashkenazi) descent. Although these diseases can affect Sephardi Jews and non-Jews, they afflict Ashkenazi Jews more often – as much as 20 to 100 times more frequently.

Why are certain disorders more common among Ashkenazi Jews?

Scientists believe that certain disorders became more common among Ashkenazi Jews because of at least two processes: the “founder effect” and “genetic drift.” The “founder effect” refers to the chance presence of these genes among the “founders” or ancestors who immigrated to eastern Europe at the time of the Diaspora (70 A.D.). Prior to this time we presume that these disorders were no more common among Jews than among any other people. “Genetic drift” refers to the increase in frequency of the genes for these disorders in this group, as a result of chance. Because Jews tend to not marry outside of their faith and community, the relatively high frequency of these genes among Jews did not pass into other communities, nor were their effects diluted by the introduction of other genes from outside the Ashkenazi Jewish community.

What are the Jewish genetic disorders?

There is no “official” list of these conditions, and they include disorders which directly result from mutated genes (Mendelian disorders), and disorders which result from the combination of specific genes (disease predisposition genes) plus other factors.

Mendelian Disorders
Bloom Syndrome
Canavan Disease
Cystic Fibrosis
Factor XI Deficiency
Familial Dysautonomia (Riley-Day syndrome)
Fanconi Anemia
Gaucher Disease
Mucolipidosis IV
Niemann-Pick Disease
Non-Classical Adrenal Hyperplasia
Nonsyndromic Hearing Loss
Tay-Sachs Disease
Torsion Dystonia

Disease Predisposition Genes

Breast Cancer (BRCA1 and BRCA2)
Familial Colon Cancer

Are there Sephardi Jewish genetic diseases?

Yes. These include Beta-thalassemia, Familial Mediterranean Fever, Glucose-6-phosphate dehydrogenase deficiency, and Type III Glycogen Storage disease.

What other groups of people have specific genetic diseases?

It is estimated that we all carry 6 – 8 disease-producing genes which would be harmful if passed on to our children by both mother and father. Many other racial and ethnic groups have “their own” genetic disorders – disorders which are not unique to the group, but which are more common in the group.

AncestryDiseaseCarrier FrequencyDisease Incidence
BlacksSickle Cell Anemia1 in 121 in 600
Ashkenazi JewsTay-Sachs disease
Canavan disease
1 in 30
1 in 35 – 40
1 in 3,600
1 in 6,000
Greeks, Italiansbeta-thalassemia1 in 301 in 3,600
SE Asians, Chinesealpha-thalassemia1 in 251 in 2,500
N. EuropeansCystic fibrosis1 in 251 in 2,500