Elucidation of fibrous dysplasia pathogenesis using disease-specific iPS cells and application to drug discovery

2016 Fiscal Year Final Research Report

• Project/Area Number: 15K15733
• Research Category: Grant-in-Aid for Challenging Exploratory Research
• Allocation Type: Multi-year Fund
• Research Field: Surgical dentistry
• Research Institution: The University of Tokyo
• Principal Investigator: HOSHI Kazuto 東京大学, 医学部附属病院, 准教授 (30344451)
• Co-Investigator(Renkei-kenkyūsha): OTSU Makoto 東京大学, 医科学研究所, 准教授 (30361330)
• Project Period (FY): 2015-04-01 – 2017-03-31
• Keywords: 線維性骨異形成症 / 疾患特異的iPS細胞 / ゲノム編集 / 創薬

Outline of Final Research Achievements

Fibrotic dysplasia is a disease in which normal bones replace with young bones and connective tissues, resulting in bone deformity and pathological fractures as the main symptoms. Mutation of the GNAS1 gene is known as one of the causes of onset. Currently, the only treatment method for the disease is bone loss surgery, and no fundamental therapeutic agent has been developed yet.
To elucidate the pathophysiology of fibrotic dysplasia and discover therapeutic drugs, a large amount of lesion cells of the disease are required. Therefore, we incorporated GNAS1 mutant genes into iPS cells by genome editing technology to obtain GNAS1 mutant iPS cells, which could be a tool for producing large amounts of diseased cells. In addition, we constructed a screening system to investigate compounds effective for the treatment of this disease.

Free Research Field

再生医療、口腔外科学