Jewish (Ashkenazi and Sephardic) genetic diseases
17
JULY
2012
While for many years the emphasis has been on the existence of genetic diseases relatively frequent among Ashkenazi Jews such as Tay Sachs diseases, in the last decades it became evident that a same phenomenon exists in each of the different Jewish communities. In most of the cases genetic diseases are found in a relatively high frequency in one Jewish community only since a relatively recent mutation occurred in one individual from the community and later expanded among his descendants (founder effect). Examples of such disorders are familial dysautonomia among Ashkenazi Jews, phenylketonuria leukodystrophy among Jews from Yemen, or ataxia telangiectasia among Jews from North Africa. In some cases the disorder is present in more than one community for example a same mutation that is responsible for a mild coagulation defect (factor XI deficiency) that is frequent among Ashkenazi Jews and present among Iraqi Jews. It was demonstrated that the mutation probably first occurred around the period between the destruction of the First Temple and the destruction of the Second Temple before the separation of these communities. Migration is another reason for the existence of a same mutation in several communities. For instance, a single mutation is responsible for a frequent myopathy among Iranian Jews as well as descendants of Iranian Jews that migrated to Afghanistan. Some of the "Jewish" mutations have been also found in non-Jews, often in populations with similar origins. For instance, there are several examples of diseases frequent among non-Ashkenazi Jews that are also found in non Jews from Spain or its ancient colonies most probably among descendants of Jewish converted after the expulsion from Spain.
| Speaker | Location |
|---|---|
|
Joël ZLOTOGORA |
Seine B |