| Project/Area Number |
20K16924
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 52050:Embryonic medicine and pediatrics-related
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| Research Institution | Kyoto University |
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Principal Investigator |
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| Project Period (FY) |
2020-04-01 – 2024-03-31
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| Project Status |
Completed (Fiscal Year 2023)
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| Budget Amount *help |
¥4,290,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥990,000)
Fiscal Year 2023: ¥520,000 (Direct Cost: ¥400,000、Indirect Cost: ¥120,000)
Fiscal Year 2022: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2021: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2020: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
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| Keywords | 先天免疫異常症 / 遺伝子診断 / 病態解析 / RNA発現解析 / RNA / 免疫不全症 / 原発性免疫不全症 / 深部イントロン変異 / 発現解析 / mRNA |
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| Outline of Research at the Start |
mRNAに注目することで、従来法で検出しえない原発性免疫不全症の遺伝子異常を包括的に検出する遺伝子診断方法の構築する。
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| Outline of Final Research Achievements |
1) I have participated in an international joint research program and contributed to a paper which reports a novel pathological mechanism of RelA abnormalities due to dominant-negative effects. 2) In children with undiagnosed inflammatory diseases, we demonstrated the possibility of improving diagnosis rates and providing individualized treatment by classifying the patients based on the inflammation pathway using RNA expression analysis. 3) We have confirmed that RNA analysis using non-hematological tissue, such as hair follicle, was effective and non-invasive approach to analyze the expression of inborn errors of immunity-associated genes that are not expressed in blood cells. 4) We have developed a new simple and quick diagnostic method for NEMO deficiency, the diagnosis of which is difficult by next-generation sequencing method.
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| Academic Significance and Societal Importance of the Research Achievements |
小児発熱性疾患・先天免疫異常症において，RNA発現に着目した病型分類が診断効率向上や個別化医療に役立つ可能性を報告するとともに，RelA異常症という疾患の新たな病態を明らかにした。また，血液をもちいたRNA診断法では対応が困難な遺伝子の発現を比較的低侵襲に解析できる可能性を明らかにした。
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