Construction of a genomic analysis system of an ocular orphan disease.
| Project/Area Number |
24592654
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | Juntendo University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
MURAKAMI Akira 順天堂大学, 医学部眼科学教室, 教授 (90157743)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Project Status |
Completed (Fiscal Year 2014)
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| Budget Amount *help |
¥5,460,000 (Direct Cost: ¥4,200,000、Indirect Cost: ¥1,260,000)
Fiscal Year 2014: ¥260,000 (Direct Cost: ¥200,000、Indirect Cost: ¥60,000)
Fiscal Year 2013: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2012: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
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| Keywords | Genetics / Molecular genetics / Gene analysis / Orphan disease / Inherited eye disease / Sequencing / Micro Array / Mutation / 常染色体劣性網膜色素変性 / Leber先天黒内障 / 家族性滲出性硝子体網膜症 / Norrie病 / マイクロアレイ / MLPA法 / 変異 / 次世代シーケンサ / 国際情報交換、インドネシア / 国際情報交換、ベルギー |
|---|
| Outline of Final Research Achievements |
Arai E, et al. Familial cases of Norrie disease detected by copy number analysis. JJO. 2014
Suzuki T, et al. A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with LCA. JJO. 2014
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Report
(4 results)
Research Products
(24 results)
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[Presentation] 小児眼疾患の遺伝2014
Author(s)
藤巻拓郎
Organizer
第６８回日本臨床眼科学会
Place of Presentation
神戸 ポーピアホテル
Year and Date
2014-11-13 – 2014-11-16
Related Report
Invited
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