| Project/Area Number |
16K09974
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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 |
Pediatrics
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| Research Institution | Keio University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
上原 朋子 慶應義塾大学, 医学部(信濃町), 助教 (30767124)
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| Research Collaborator |
SUZUKI Hidenori
MITANI Shohei
KOSAKI Kenjiro
OKAMOTO Nobuhiko
Kondoh Tatsuro
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| Project Period (FY) |
2016-04-01 – 2019-03-31
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| Project Status |
Completed (Fiscal Year 2018)
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| Budget Amount *help |
¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2018: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2017: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
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| Keywords | 武内・小崎症候群 / 巨大血小板 / 知的障害 / 血小板減少症 / リンパ浮腫 / 免疫不全 / CDC42 / 血小板低下 / 神経科学 / ゲノム |
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| Outline of Final Research Achievements |
We performed electron micrographic analysis of the patients' platelets, and functional analysis of mutant C. elegans carrying the p.Tyr64Cys mutation in cdc-42. The results were published in Scientific Reports. Macrothrombocytopenia, intellectual disability, sensorineural deafness, distinctive facial features and structural brain abnormalities are cardinal features of Takenouchi-Kosaki syndrome.
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| Academic Significance and Societal Importance of the Research Achievements |
本研究の成果をもとに、さらに治療に向けた研究に発展させるため、2018年度から日本医療研究開発機構 難治性疾患克服研究事業「CDC42阻害剤による武内・小崎症候群の治療法の開発」研究班が発足した。本疾患が2019年度から厚生労働省小児慢性特定疾病に指定されることが決定した。
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