最先端研究セミナー

 

Abstract:

Thirty ophthalmology departments and institutions in Japan were united as a Japan Eye Genetics Consortium (JEGC, http://jegc.jp) to obtain information of gene mutations responsible for hereditary retinal diseases. The disease includes retinitis pigmentosa, Leber’s congenital amaurosis, Stargardt disease, macular dystrophy, congenital stationary night blindness, achromatopsia, hereditary open angle glaucoma and others. Patient’s phenotypic information from 872 pedigrees were collected through secure online database and blood/saliva samples were also collected for DNA extraction. Exon capture (Agilent, SureSelect ver. 6) and DNA sequencing (Illumina, HiSeq4000) at average of 100 reads were performed. The sequence analysis was performed at Tokyo Medical Center (Tokyo, Japan). Approximately 14% of the pedigree was identified with known mutations, 17% with novel mutation in known genes, and surprisingly 8% of the pedigree resulted with mutation in novel gene. Each novel disease-causing gene is cloned and characterized for functional abnormality in patient derived iPS cells or in knock-in mouse eye. Collected genotype-phenotype information is now under construction AMED for public database. The novel mutations identified in Japanese patients were added to the collection of LUMINEX multiplex PCR detection kit (MBL, Co., Ltd.) for future gene mutation detection service in Asia. To identify multiple families with same gene mutations, Asian Eye Genetics Consortium (AEGC, http://asianeyegenetics.org) was established in 2014 to promote collaborative research program to exchange eye genetic information and researcher in this region with common disease interest. Over 130 members from 17 countries has now joined the consortium to expand the research to entire Asia.

 

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