Research on development of a prediction system for the onset of severe ocular surface disease by analysis of gene polymorphism interaction

2017 Fiscal Year Final Research Report

• Project/Area Number: 16K15738
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Ophthalmology
• Research Institution: Kyoto Prefectural University of Medicine
• Principal Investigator: Kinoshita Shigeru 京都府立医科大学, 医学(系)研究科(研究院), 教授 (30116024)
• Co-Investigator(Kenkyū-buntansha): 上田 真由美 京都府立医科大学, 医学(系)研究科(研究院), 准教授 (60398386) ; 岡田 随象 東京医科歯科大学, 大学院医歯学総合研究科, 非常勤講師 (70727411)
• Project Period (FY): 2016-04-01 – 2018-03-31
• Keywords: 遺伝子解析 / 遺伝子多型 / variants / 発症予測 / 全ゲノムシークエンス

Outline of Final Research Achievements

The goal of this study is to develop a prediction system for onset of severe ocular surface disease, Stevens-Johnson syndrome. In this study, we investigated new disease-related genes using whole-genome sequencing analysis focusing on the possibility of newborn mutation because Stevens-Johnson syndrome, which is severe ocular surface disease, is extremely rare. Stevens - Johnson syndrome with severe ocular complications often occur after taking cold medicines, so preliminary high - risk prediction can contribute to the prevention of the onset of this disease, and the discovery of new disease - related genes which mgith contribute the pathological condition of this disease, is expected to promote elucidation and contribute to the development of new therapeutic drugs.

Free Research Field

眼科学