Mutations that disrupt the function of the CHD8 gene are among the strongest known genetic risk factors for autism because they interfere with early brain development. Recently, Dr. Jason Stein, PhD (Department of Genetics and UNC Neuroscience Center) and his lab discovered small clusters of misplaced neurons, called cortical heterotopias, in mouse models carrying CHD8 mutations developed by Dr. Mark Zylka, PhD (Department of Cell Biology and Physiology, UNC Neuroscience Center). Similar brain differences have been observed in some individuals with autism and other neurodevelopmental conditions, but it remains unclear whether these abnormalities contribute to autism symptoms or how common they are in people with CHD8 mutations. To address this question, we assembled a multidisciplinary team with expertise in both animal and human neuroscience research. Dr. Marissa DiPiero, PhD (Department of Psychiatry and Carolina Institute for Developmental Disabilities) will lead the human brain imaging component of the project alongside Dr. Jessica Giriault, PhD (Department of Psychiatry and Carolina Institute for Developmental Disabilities) and Dr. Mark Shen, PhD (Department of Psychiatry, Neuroscience, and Carolina Institute for Developmental Disabilities). First, we will examine brain MRI scans from individuals with CHD8 mutations to determine whether cortical heterotopias are present. Next, the team will develop and apply advanced MRI acquisition and image analysis methods designed to detect these very small brain abnormalities, which are often missed by standard imaging approaches. This study will provide the first detailed investigation of brain structure in individuals with CHD8-related autism. By improving our understanding of how CHD8 mutations alter brain development, this work could help identify biological mechanisms underlying autism and support the future development of targeted treatments for CHD8-related autism and potentially other forms of autism spectrum disorder.