2020 Fiscal Year Final Research Report
NGS of multiple onset schizophrenia families
| Project/Area Number |
18K07554
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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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| Review Section |
Basic Section 52030:Psychiatry-related
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| Research Institution | Nagoya University |
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Principal Investigator |
Aleksic Branko 名古屋大学, 医学系研究科(国際), 特任准教授 (60547511)
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| Project Period (FY) |
2018-04-01 – 2021-03-31
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| Keywords | exome seqencing |
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| Outline of Final Research Achievements |
In this research we dissected genetic architecture of schizophrenia using families with multiple affected members. Until now most family based exome sequencing used trio based design and research was focused mainly on de novo variants (i.e. variants that are not present in parents but exist in affected children). In the current research besides de novo variants we focused on inherited variants. These are variants that are present in all affected member in one pedigree. In addition we investigated variants that are rare and of high impact (i.e. splice site mutation and/or nonsense variants), which may be family specific but exhibit incomplete penetrance (i.e. present in both affected and non affected members of the same family.
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| Free Research Field |
biological psychiatry
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| Academic Significance and Societal Importance of the Research Achievements |
This research helped to alleviate misconceptions and reduce stigma through an improved understanding of the genetic cause of psychiatric disorders, and eventually offer support to patients and their families.
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