2017 Fiscal Year Final Research Report
Genetic diagnosis of microcephaly
| Project/Area Number |
16K15526
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Nagoya University |
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Principal Investigator |
OGI Tomoo 名古屋大学, 環境医学研究所, 教授 (80508317)
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| Project Period (FY) |
2016-04-01 – 2018-03-31
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| Keywords | 遺伝・先天異常学 / 遺伝性小頭症 |
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| Outline of Final Research Achievements |
Primary microcephaly is partially caused by deficiencies in DNA Damage Response system (DDR system). As prevalence of these genetic disorders are very rare and the patients usually display overlapping clinical features, we often face with difficulties in the clinical diagnosis.
In this project, we aimed to develop a system helpful in the differential diagnosis of microcephaly and similar conditions. The developed system comprises next generation DNA sequencing (NGS) as well as DDR activity assays for detecting deficiencies in double strand break (DSB) repair and nucleotide excision repair (NER).
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| Free Research Field |
人類遺伝学
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