Early Roles of SYNGAP1 in Neurodevelopment: Insights from a Top Autism Risk Gene

Human brain organoids help researchers study neurodevelopmental disorders that are difficult to examine directly in developing brain tissue. Giorgia Quadrato, USC, uses cortical organoids derived from human pluripotent stem cells to examine SYNGAP1, an autism risk gene associated in the transcript with intellectual disability, epilepsy, and global developmental delay. Quadrato describes how SYNGAP1 appears in progenitor cells as well as neurons, and how SYNGAP1 haploinsufficiency is linked to disrupted radial glia organization, altered cell division, and faster maturation of cortical projection neurons. She also discusses newer work focused on enteric neurons, gastrointestinal symptoms, and gut motility. By connecting brain development, autism genetics, and the enteric nervous system, this research points to models that may help test therapies and better understand symptoms that affect families. Series: "Autism Tree Project Annual Neuroscience Conference" [Health and Medicine] [Science] [Show ID: 41174]