Genetic Disease in the Ashkenazim: Role of a Founder Effect

One in four Ashkenazi Jews is a carrier of a genetic disorder. More than 20 recessive genetic disorders are known to be prevalent in this population. Among these are four lysosomal storage diseases (LSD) and it has been suggested that carrier advantage is the driving force. For the most part the prevalence can be explained by genetic drift and consanguinity. Here we define the origin of the Ashkenazi Jews and the histories of some of the common genetic disorders. Nowadays, we will also outline the common practice for genetic screening in the Ashkenazi Jewish population in Israel nowadays. Keywords: Ashkenazi Jews; founder mutation; genetic drift; selection advantage; genetic screening