Core/Unit Introduction

Next Generation Medical Development Research Core

Social Brain Development Research Unit

Elucidating the Pathogenic Mechanisms of ASD and Translating These Insights into Drug Discovery and Therapeutic 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

Elucidating the Pathogenic Mechanisms of ASD Using Chd8-Mutant Mice
Using mouse models of ASD caused by Chd8 mutations, we aim to identify the critical developmental periods, affected brain regions, and pathogenic mechanisms of ASD and to develop new therapeutic agents for ASD.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired social communication and repetitive, restricted behaviors. There is an urgent need to elucidate its pathogenic mechanisms and develop effective treatments. Recent large-scale genomic analyses of individuals with ASD have identified the chromatin remodeling factor CHD8 as one of the strongest causative candidate genes for ASD, attracting considerable worldwide attention. We generated mouse models carrying CHD8 mutations found in individuals with ASD and were the first to demonstrate that these mice exhibit ASD-like behavioral abnormalities. Using these models, the Social Brain Development Research Unit aims to define the critical developmental periods, affected brain regions, and responsible cell types that contribute to ASD pathogenesis, elucidate the underlying disease mechanisms, and establish new therapeutic strategies.