Using stem cells generated from patients with a rare and severe form of autism spectrum disorder and intellectual disability, Scripps Research scientists have grown personalized "mini-brains" (or organoids) to study the disorder in new detail. The lab-grown organoids allowed the team to gain a new understanding of how one genetic mutation leads to autism spectrum disorder. It also showed that an experimental drug, called NitroSynapsin, reversed some of the brain dysfunction associated with autism in these models.
"Our work shows how this genetic mutation that has been associated with autism, disrupts the typical balance of brain cells during development," says Stuart A. Lipton, MD, PhD, Step Family Foundation Endowed Professor and co-director of the Neurodegeneration New Medicines Center at Scripps Research, a clinical neurologist, and senior author of the new research published online in Molecular Psychiatry on September 30, 2024 . "But we've also established that there could be ways to address this imbalance later in life.
" Learning from patients Autism spectrum disorder (ASD) is a neurological and developmental disorder that affects social interactions, repetitive interests and behaviors, and communication. The causes of ASD are only partially known; a number of genetic variants have been associated with the disorder, but each only explain a tiny percentage of cases. For many years, studies of ASD have revolved around modeling the disorder in mice or studying isolated huma.