elucidation of a mechanism of developmental disorder caused genome copy number aberration

2016 Fiscal Year Final Research Report

• Project/Area Number: 24791090
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Tokyo Women's Medical University
• Principal Investigator: Shimojima Keiko 東京女子医科大学, 医学部, 特任助教 (30578935)
• Project Period (FY): 2012-04-01 – 2017-03-31
• Keywords: iPS細胞 / 発達障害 / 神経細胞遊走障害 / ニューロン / シナプス

Outline of Final Research Achievements

In this study, we generated disease-specific induced pluripotent stem cells (iPSCs) from patients with developmental disorder whose genetic causes were identified, and we established neuronal differentiation model. We showed that disease-specific iPSCs showed abnormal neurite extension, loss of density of spine number, reduced neuronal action potential.
Furthermore, we newly identified genomic causes of patients with developmental disorder by next generation sequencing.

Free Research Field

小児科