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2015 Fiscal Year Final Research Report

Translating human genetics into mouse with genome editing

Research Project

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Project/Area Number 26830131
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Medical genome science
Research InstitutionTokyo Medical and Dental University

Principal Investigator

Aida Tomomi  東京医科歯科大学, 難治疾患研究所, 准教授 (50540481)

Project Period (FY) 2014-04-01 – 2016-03-31
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
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.

Free Research Field

ゲノム編集

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Published: 2017-05-10  

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