25 March 2009

A guide to Jewish genetic diseases

Moment magazine launched JewishHealth: Your Guide to Intelligent Living in its April issue:
Use this guide to stay informed about a wide spectrum of issues that may affect you and your family. In this first edition, we focus on rare genetic diseases that occur more often in Jews of Ashkenazi and Sephardic descent than in the general population.
Genetic mutations involving these conditions occur when a child inherits two recessive genes - one from the father, one from the mother. Today, tests can determine if parents carry these genes, and prenatal testing is possible for all the conditions on the list in the article.

Extensive Jewish community testing since the 1970s for just one genetic condition - Tay-Sachs - has nearly eradicated it. Professionals hope that testing for the others can achieve the same results.

The Ashkenazim are generally considered to have lived in Western - Central - Eastern Europe, while Sephardim can be traced to Iberia, North Africa and the Mediterranean (Greece, Italy, etc.). Tracing the Tribe also reminds readers that Sephardic communities existed alongside Ashkenazi communities in many locations; marriages between the two communities inevitably occurred.

While many Jewish families do not know their true origins, as evidenced by various genetic genealogy DNA projects, the facts of Jewish history through the ages also indicates that many non-Jewish families today are not aware of their roots following persecutions, forced conversions and assimilation.

Other professionals have said that genetics counselors may not know enough about Jewish history and migration patterns and should know more.

Most Jewish genealogists know that Jewish Records Indexing-Poland was begun by one man whose family carries an unusual blood condition - possibly fatal if treated in the wrong way - and wanted to let others - whose ancestors come from the same area - know about the possibility. What is amazing is that this same rare mutation has also been found in non-Ashkenazi families. Such cases raise interest in who our ancestors really were and our true origins.

Check out the article link above for more information on these genetic diseases. For even more information, simply Google the name of each and find many websites with extensive information.


Cystic Fibrosis
Crohn’s Disease
Bloom Syndrome
Canavan Disease
Familial Dysautonomia
Fanconi Anemia Type C
Gaucher Disease, Type 1
Mucolipidosis (ML IV)
Neimann-Pick Disease
Tay-Sachs Disease
Torsion Dystonia


Familial Mediterranean Fever
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD)
Glycogen Storage Disease, Type III (Cori’s Disease, Forbes Disease)
You owe it to yourself and your descendants to check out your own family health histories.

Read the complete article at the link above.


  1. Anonymous11:52 AM

    This list should also include mutations known as BRCA1 and BRCA2 which can increase the risk of breast or ovarian cancer. Anyone of Ashkenazi descent who has these diseases in their family history should get tested for the mutation.

  2. Of course, everyone should be aware of BRCA1 and BRCA2. But they are not only found in Ashkenazi women as Tracing the Tribe has posted previously. These are also found in Hispanic women who are descendants of Converso, who may or may not know their family origins. There are women who believe they are Eastern European Ashkenazi, but whose family origin is really Sephardic. It is important for ALL women to undergo regular check-ups and tests.