| Project/Area Number |
26830131
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Medical genome science
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
Aida Tomomi 東京医科歯科大学, 難治疾患研究所, 准教授 (50540481)
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2015: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2014: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000)
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| Keywords | ノックインマウス / CRISPR / TALEN / ゲノム編集 / 疾患ゲノム / レアバリアント / 疾患モデル / ノックイン / マウス / 変異 / バリアント / CRISPR/Cas / 緑内障 |
|---|
| Outline of Final Research Achievements |
Recent advances in next generation sequencing technologies have revealed the landscape of human genetic diversity, which is comprised of millions of rare variants associated with health and disease. One possible approach to address the biological function of rare variants, as well as determining whether they are causal for the human phenotype of interest, is the use of precisely modified knockin mouse models carrying such human rare variants. We developed highly efficient, ultra-rapid, and cost-effective genome editing technologies for knockin mouse production. We generated a series of knockin mice mice carrying rare variants discovered from glaucoma patients. We found the pathogenic mechanism of these rare variant to glaucoma-like abnormalities in mice. Our results provide an useful approach to examining in vivo functional significance of rare variants.
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