| Project/Area Number |
25860840
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Tohoku University (2015)
Nagoya University (2013-2014) |
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Principal Investigator |
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2014: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
Fiscal Year 2013: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | VEO-IBD / 単一遺伝子異常 / 免疫不全症 / 全エクソーム解析 / 免疫不全症候群 / 希少疾患の原因究明 / 新規病因遺伝子の同定 / オーダーメイド治療 |
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| Outline of Final Research Achievements |
We analyzed the peripheral blood samples from very early onset-inflammatory bowel disease (VEO-IBD) patients, whose age less than 8 years old, on written informed consent from their guardians, and performed whole exome sequencing for detection and analyses of the causative genes and their role with Next generation sequencer in the department of pediatrics, Tohoku university.
We detected the causative genes of VEO-IBD in 5 of 35 cases/33 families, included 2 of IL-10 receptor A deficiency, 2 of XIAP deficiency, and 1 of Chronic granulomatous disease, each of which was documented with a causative gene of VEO-IBD due to the single gene alternation. We revealed that there were constant cases of VEO-IBD, associated with some immune deficiency diseases in Japan, and it will be possible that in the future we would make the appropriate proposal for diagnosis and treatment of VEO-IBD due to their causative genes and clinical information.
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