Cause elucidation of the severe fetal disease by the next-generation sequencer and establishment of the gene library
| Project/Area Number |
15K10690
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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 |
Obstetrics and gynecology
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| Research Institution | Showa University |
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Principal Investigator |
Matsuoka Ryu 昭和大学, 医学部, 准教授 (20349111)
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| Co-Investigator(Kenkyū-buntansha) |
関沢 明彦 昭和大学, 医学部, 教授 (10245839)
四元 淳子 昭和大学, 医学部, 特別研究生 (30553648)
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| Project Period (FY) |
2015-04-01 – 2018-03-31
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| Project Status |
Completed (Fiscal Year 2017)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2017: ¥780,000 (Direct Cost: ¥600,000、Indirect Cost: ¥180,000)
Fiscal Year 2016: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Fiscal Year 2015: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
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| Keywords | 骨系統疾患 / 遺伝子診断 / 遺伝カウンセリング / 中枢神経異常 / 胎児異常 / エクソーム解析 / 次世代シークエンサー |
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| Outline of Final Research Achievements |
This study is to establish the system to investigate the genetic cause of rare diseases i.e. hydrocephalus, anencephalia and bone dysplasia. The system also needs genetic counseling. We investigated the genome structure of the 4th repeated anencephalia thoroughly consecutively, but did not come to show the association with the disease only by extremely rare variation (polymorphism) or de novo variation. Perform genetic analysis under the genetic counseling for two holoprosencephaly and four bone dysplasia revealed the abnormal chromosome in holoprosencephaly and abnormal sequences of fibroblast growth factor receptor-3 gene in bone dysplasia. That genetic information was provided to the parents for making decision of subsequent pregnancy. We was able to achieve the establishment of the genetic inspection system for rare diseases.
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Report
(4 results)
Research Products
(15 results)
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[Presentation] A case report of management including perinatal genetic counseling for May Hegglin Anomaly in pregnancy that low platelets counts made the opportunity to diagnose2016
Author(s)
Yuka Yamashita, Rei Matsuura, Yoshie Oikawa, Shoko Hamada, Hirotugu Ariizumi, Kei Odawara, Maya Koyano, Shogo Nishii, Tsutomu Muramoto, Shin Takenaka, Ken Nakayama, Kaori Matsumoto1, Mitsuyoshi Ichihara1, Yasushi Sasaki1, Nahoko Shiroto4, Ryu Matsuoka, Kouichi Ogawa, Akihiko Sekizawa, Shinji Kunishima
Organizer
13th International Congress of Human Genetics
Place of Presentation
京都
Related Report
Int'l Joint Research
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