Study Indicates Population Specific Founder Mutation in Jewish Community

This study is certainly relevant to what we've been studying since the midterm. More importantly, it helped develop a new paradigm to assess and treat blindness using molecular methods. What sparked the study that led to the treatment of blindness in a North African Jewish population was the discovery of a shared homozygous region among seven patients, which led researchers to conclude that there was a founder mutation specific to this population and ultimately to the development of medical procedures that would target the genes which were pinpointed as having caused the founder effect - and previously unexplained levels of heritable blindness - among a high number of individuals within population.


Molecular Anthropology Meets Genetic Medicine to Treat Blindness in the North African Jewish Population: Human Gene Therapy Initiated in Israel


http://www.liebertonline.com/doi/pdf/10.1089/hum.2010.047