Identification of risk variants based on whole-exome analysis of autism multiplex family(Fostering Joint International Research)

2019 Fiscal Year Final Research Report

• Project/Area Number: 15KK0339
• Research Category: Fund for the Promotion of Joint International Research (Fostering Joint International Research)
• Allocation Type: Multi-year Fund
• Research Field: Psychiatric science
• Research Institution: Niigata University
• Principal Investigator: Egawa Jun 新潟大学, 医歯学総合研究科, 特任准教授 (80648527)
• Project Period (FY): 2016 – 2019
• Keywords: 自閉症 / High Content Screening / 培養神経細胞 / Kinase inhibitor

Outline of Final Research Achievements

A huge number of Autism risk genes have been identified by comprehensive gene analysis such as all-exome analysis, and functional analysis of individual risk genes has been advanced. However, the whole picture of the pathological condition drawn by a huge number of Autism risk genes is elusive. The main reason seems to be the genetic heterogeneity of Autism patients. This study aimed to establish an experimental system for comprehensive analysis at the cell level. Therefore, we established an experimental system to measure the number of synapses of long-term cultured cells counted with a High Content Screening machine.

Free Research Field

発達精神医学

Academic Significance and Societal Importance of the Research Achievements

自閉症に罹患することは社会的不適応につながり、虐待・いじめ・ひきこもりなどの多様な社会問題に影響しているため、その病態解明は急務と言える。自閉症の病態解明が進まない最も大きな原因である自閉症患者群の遺伝子的背景の不均一性を解消する細胞レべルの網羅的解析を可能にする実験系の確立したことに本研究成果の意義があると考えられる。