Molecular genetic study for retinitis pigmentosa

2016 Fiscal Year Final Research Report

• Project/Area Number: 25462738
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Ophthalmology
• Research Institution: Jikei University School of Medicine
• Principal Investigator: Hayashi Takaaki 東京慈恵会医科大学, 医学部, 准教授 (10297418)
• Project Period (FY): 2013-04-01 – 2017-03-31
• Keywords: 網膜色素変性 / レーベル先天黒内障 / 分子遺伝学的 / 次世代シークエンサ / 全エクソーム解析 / 遺伝子変異 / 脳回状脈絡膜萎縮

Outline of Final Research Achievements

Retinitis pigmentosa is the most common inherited retinal dystrophy. Molecular genetic mechanisms of retinitis pigmentosa have not been fully elucidated so far because of a variety of causative genes and their mutations. In this study, we performed molecular genetic analysis to find out causative gene mutations and identified some of new gene mutations, which were different from the mutations reported in Europe and USA. We confirm that our results enable us to perform precise diagnostic approach and genetic counseling, and could be beneficial for promising next-generation treatments such as gene replacement and regenerative medicine therapies.

Free Research Field

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