| Project/Area Number |
17H04056
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | The University of Tokyo (2018-2020, 2022)
Kobe University (2017) |
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Principal Investigator |
SATAKE WATARU 東京大学, 医学部附属病院, 准教授 (50467594)
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| Co-Investigator(Kenkyū-buntansha) |
永井 義隆 大阪大学, 医学系研究科, 寄附講座教授 (60335354)
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| Project Period (FY) |
2017-04-01 – 2021-03-31
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| Project Status |
Completed (Fiscal Year 2022)
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| Budget Amount *help |
¥17,680,000 (Direct Cost: ¥13,600,000、Indirect Cost: ¥4,080,000)
Fiscal Year 2020: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2019: ¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2018: ¥4,680,000 (Direct Cost: ¥3,600,000、Indirect Cost: ¥1,080,000)
Fiscal Year 2017: ¥5,200,000 (Direct Cost: ¥4,000,000、Indirect Cost: ¥1,200,000)
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| Keywords | パーキンソン病 / 神経変性疾患 / ゲノム創薬 / 神経遺伝 |
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| Outline of Final Research Achievements |
To elucidate the genetic background of Parkinson's disease (PD), we reported genetic risk heterogeneity between East Asians and Japanese and Europeans in PD risk for two novel loci found in a large-scale genomic meta-analysis of an East Asian team collaboration. As a genomic drug discovery for PD, we listed candidate drugs for PD using GWAS data and in silico database approach, and reported that one of them, dabrafenib, showed cytoprotective activity in cellular systems and model mice, and could be a disease-modifying drug for PD. As a pharmacogenomics study in PD, we performed a GWAS focusing on the efficacy of zonisamide, a drug for PD, and found SNPs that define the efficacy of the drug.
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| Academic Significance and Societal Importance of the Research Achievements |
パーキンソン病(PD)は、中脳ドパミン神経などの神経細胞の進行性の変性により、人生の中～晩年期に、運動障害や認知症などをきたす神経難病であり、65歳以上の1-2%が罹患する、難病の中でも比較的頻度の高い疾患である。ドパミン補充などの対症療法的な治療法は現行でも存在するが不十分であり、発症後5-10年で独歩不可となってしまうため、本症の神経変性の進行を食い止めるような革新的な治療法（根本治療法）の開発が待望されている。そこで、本申請では、PDのゲノム背景の解明とその応用に主眼をおき、本症のゲノム創薬やファーマコゲノムクス研究を行った。
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