Core/Unit Introduction

Next Generation Medical Development Research Core

Social Brain Development Research Unit

Unraveling the pathogenic mechanisms of ASD and its application to drug discovery and development

Specialty:Molecular biologyCell biologyNeuroscienceNeuropsychiatry

Keyword:EpigeneticsChromatin remodelingDevelopmental disordersAutism spectrum disorder

Unit Leader / Professor

NISHIYAMA Masaaki

Researcher Information

Young Principal Investigator
/ Assistant Professor

丸岡 久人

MARUOKA Hisato

Researcher Information

Research Content

Unraveling the pathogenic mechanisms of ASD using chd8 mutant mice
Using mouse models of ASD caused by chd8 mutations, we aim to identify the onset timing of ASD, the responsible lesion, and the pathogenic mechanisms of ASD, and to develop new therapeutic agents for ASD.

Autism spectrum disorder (ASD) is neurodevelopmental disorders characterized by impaired social interaction as well as by repetitive and restricted behaviors. There is a compelling need to unravel the pathogenic mechanisms and develop treatments for this disorder. Recently, a large-scale genome analysis of ASD patients has identified the chromatin remodeling factor CHD8 as the most promising candidate gene for causing ASD, which has caused a great sensation worldwide. We have generated mouse models that reproduce the CHD8 mutations in human ASD patients and discovered for the first time in the world that these mice reproduce ASD-like behavioral abnormalities. The Social Brain Development Research Unit will use these model mice to identify the onset timing, the responsible site, and the responsible cell type of ASD, as well as to unravel the pathogenic mechanisms and establish a new treatment for the disorder.