Neural crest disease model using iPS cells and elucidation of pathophysiology for drug discovery

2017 Fiscal Year Final Research Report

• Project/Area Number: 26860823
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Pediatrics
• Research Institution: Keio University
• Principal Investigator: Okuno Hironobu 慶應義塾大学, 医学部(信濃町), 助教 (70445310)
• Project Period (FY): 2014-04-01 – 2018-03-31
• Keywords: CHARGE症候群 / 神経堤 / CHD7 / iPS細胞 / 遊走

Outline of Final Research Achievements

CHARGE syndrome is a disease in which organs including the heart, eyes and ears may not develop properly. The cells that form the tissues affected by CHARGE syndrome develop in embryos called neural crest cells.
We created iPSCs from CHARGE syndrome patients, developed these cells into neural crest cells, and compared them with neural crest cells that were developed from healthy individuals. The neural crest cells developed from CHARGE syndrome showed multiple abnormalities. For example, they were not able to move around correctly. This is an important observation because neural crest cells must move through tissues to form the various organs affected by CHARGE syndrome.
We also observed changes in the activity of many genes other than CHD7 in the neural crest cells developed from CHARGE patients. Further research is now needed to find out which genes are the most important for restoring the normal activity of neural crest cells.

Free Research Field

幹細胞学