Relationship between genetypes and phenotypes in patients with retinal dystrophies
Project/Area Number |
19592042
|
Research Category |
Grant-in-Aid for Scientific Research (C)
|
Allocation Type | Single-year Grants |
Section | 一般 |
Research Field |
Ophthalmology
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Research Institution | Jikei University School of Medicine |
Principal Investigator |
HAYASHI Takaaki Jikei University School of Medicine, 医学部, 講師 (10297418)
|
Project Period (FY) |
2007 – 2009
|
Project Status |
Completed (Fiscal Year 2009)
|
Budget Amount *help |
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2009: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2008: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2007: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
|
Keywords | 分子遺伝学 / 遺伝子診断 / 遺伝性網脈絡膜疾患 / 遺伝性網膜疾患 / 遺伝子変異 / 黄斑変性 / 網膜変性 / 色覚異常 |
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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Report
(4 results)
Research Products
(44 results)
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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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