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2021 Fiscal Year Final Research Report

Research about establishment, genome editing, and disease modeling of disease specific iPSC

Research Project

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Project/Area Number 19K19198
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 57060:Surgical dentistry-related
Research InstitutionHiroshima University

Principal Investigator

HAMADA ATSUKO  広島大学, 病院(歯), 助教 (30760318)

Project Period (FY) 2019-04-01 – 2022-03-31
Keywords顎顔面口腔領域 / 遺伝性疾患 / 鎖骨頭蓋異形成症 / 疾患モデル
Outline of Final Research Achievements

In order to develop diagnostic and therapeutic methods for genetic diseases that cause lesions in the oral and maxillofacial regions, we induced and established disease-specific iPSCs (DS-iPSCs) from patient-derived tissues under integration-free, serum-free, and feeder-free culture conditions to eliminate various risks associated with iPSC induction and culture methods. In addition, we have attempted to elucidate the pathogenesis of inherited maxillofacial diseases and develop diagnostic and therapeutic methods. In this study, we focused on DS-iPSC derived from clavicular craniocranial dysplasia (CCD) (CCD-iPSC). We successfully identified novel mutations within familial CCD, induced and established CCD-iPSCs, and induced differentiation of affected tissues to mimic some aspects of the pathology.

Free Research Field

口腔外科

Academic Significance and Societal Importance of the Research Achievements

顎顔面口腔領域に病変を生じる遺伝性疾患においては、その発症機構や診断・治療法が十分
に確立されていないため、本研究で樹立されたDS-iPSは、その発症に関する病原変異
遺伝子の情報を有しており、病態解明・治療法の開発に貢献すると考えられた。また、本研究では、iPSC誘導・培養法に関わる様々なリスクを排除すべく、インテグレーションフリー・無血清・無フィーダー培養条件で樹立されているため、将来的に臨床応用を検討する際にも非常に有用であると考えられる。

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Published: 2023-01-30  

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