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2018 Fiscal Year Final Research Report

Multidirectional approach for human rare diseases using massive parallel sequencing

Research Project

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Project/Area Number 16H05357
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionYokohama City University

Principal Investigator

Miyake Noriko  横浜市立大学, 医学部, 准教授 (40523494)

Research Collaborator FUJITA atushi  
SAIDA ken  
SUZUKI toshifumi  
KOSHIMIZU eriko  
MATSUMOTO Naomichi  
Project Period (FY) 2016-04-01 – 2019-03-31
Keywords次世代シークエンサー / 全エクソーム解析 / 全ゲノムシークエンス / 新規疾患遺伝子 / ロングリードシークエンス
Outline of Final Research Achievements

We identified seven novel disease genes (TBCD, AIFM1, NUP133, NOP104, KAT6A, FBOX11, and PMPCB) including the collaborative work. Among then, we received a patent for the TBCD gene which we identified as the responsible gene for early-onset neurodegenerative encephalopathy. We also analyzed the patients with Aicardi syndrome, hypermobility type of Ehlers-Danlos syndrome, steroid-resistant nephrotic syndrome by whole exome, in addition we analyzed some of typical cases by whole genome sequencing. However, we have not identified the novel disease gene for these diseases by the current methods so far.

Free Research Field

分子遺伝学

Academic Significance and Societal Importance of the Research Achievements

小児早期発症の多系統神経萎縮の疾患遺伝子TBCDを同定したことにより、本疾患が常染色体劣性遺伝をとること、また詳細な臨床症状の集積により自然歴が明らかとなった。これらの成果は、本疾患における疾患概念の確立と遺伝カウンセリングや医療的介入時に必要な情報を提供できるものである。ほかの疾患に関しても、疾患責任遺伝子、遺伝形式、自然歴を明らかにできたことは、医療を行う上で非常に有用な情報を提供できるものである。

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Published: 2020-03-30  

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