2009 Fiscal Year Final Research Report
Relationship between genetypes and phenotypes in patients with retinal dystrophies
| Project/Area Number |
19592042
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Jikei University School of Medicine |
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Principal Investigator |
HAYASHI Takaaki Jikei University School of Medicine, 医学部, 講師 (10297418)
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| Project Period (FY) |
2007 – 2009
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| Keywords | 分子遺伝学 / 遺伝子診断 / 遺伝性網脈絡膜疾患 |
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| Research Abstract |
Retinal dystrophies cause genetically and progressively visual disturbances. To date, any effective treatments have never been available. In addition, pathological gene mutations have not been found in most of retinal dystrophies. We investigated the disease features and the causative genes in the Japanese patients with retinal dystrophies. It was demonstrated that the gene mutations we identified were different from those identified in other ethnic populations. We believe that identification of gene mutations holds promise for treatment of retinal dystrophies.
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[Journal Article] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.2009
Author(s)
Goto A, Akahori M, Okamoto H, Minami M, Terauchi N, Haruhata Y, Obazawa M, Noda T, Honda M, Mizota A, Tanaka M, Hayashi T, et al
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Journal Title
J Ocul Biol Dis Infor 2
Pages: 164-175
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