Update on the Japan Eye Genetics Consortium (JEGC)

Abstract

Japan Eye Genetics Consortium (JEGC) was launched in 2011 to identify gene mutations responsible for 37 hereditary retinal diseases including hereditary optic neuropathy and hereditary glaucoma in Japanese population. More than 2,300 DNA samples have now been collected from 30 university ophthalmology departments in Japan for whole genome/exome analysis. Our study shows that approximately 80% of families with inherited retinal disease carry novel gene mutations. Number of new genes were identified and expected for dozens more. This high heterogynous genetic background of Japanese patients with novel gene mutations is a challenge to our consortium to identify all disease-causing mutations within the time frame of research funding. JEGC is also responsible to identify molecular mechanism of disease onset for each mutation and apply these seed information for therapeutic development.