| Project/Area Number |
16K15738
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Ophthalmology
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| Research Institution | Kyoto Prefectural University of Medicine |
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Principal Investigator |
Kinoshita Shigeru 京都府立医科大学, 医学(系)研究科(研究院), 教授 (30116024)
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| 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)
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| 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 / 全ゲノムシークエンス解析 / 次世代シークエンサー / De Novo mutation / 全ゲノム解析 / 遺伝子 / 眼生化学・分子生物学 |
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| 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.
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