2015 Fiscal Year Final Research Report
Modelling childhood neurotransmitter diseases using iPSCs
| Project/Area Number |
24591521
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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 | Osaka City University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
SHINTAKU Haruo 大阪市立大学, 大学院医学研究科, 教授 (00206319)
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| Co-Investigator(Renkei-kenkyūsha) |
UMEZAWA Akihiro 独立行政法人国立成育医療センター, 細胞医療研究部, 再生医療センター長 (70213486)
TOYODA Masashi 東京都健康長寿医療センター研究所, 老年病態研究チーム, 副部長 (50392486)
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| Project Period (FY) |
2012-04-01 – 2016-03-31
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| Keywords | iPS細胞 / 神経疾患 / 代謝性疾患 / 希少疾患 |
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| Outline of Final Research Achievements |
Childhood neurotransmitter diseases are genetic syndromes caused by dysfunctional synapsis. Based on our national survey for these diseases, clinical phenotype and laboratory profiles have been illustrated. Conventional laboratory testing for blood and cerebrospinal fluid, however, could not explain pathogenesis of neurological symptoms. Because each of the disease is extremely rare, there is no systematic approach to develop novel treatment. Here we aimed to establish model system by using patient derived iPSCs to elucidate molecular mechanisms for this devastating neurological phenotypes. As the results, we were able to established disease-specific iPSCs and successfully differentiated into neurons. Furthermore, we examined pathogenesis of the disease at cellular and molecular level.
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| Free Research Field |
小児科学
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