Stanford Study Identifies Genes Linked to Autism, Advancing Understanding of Brain Development Disorders

February 22, 2024

Stanford University researchers, utilizing sophisticated tools to simulate brain development in lab conditions, have identified numerous genes that potentially disrupt critical stages of brain development, potentially leading to autism—a condition affecting communication and interaction in about 1 in every 36 Americans. Published in the journal Nature, this decade-long study suggests that these findings could eventually help in creating treatments to ensure unaffected brain development phases. The research aligns with a two-decade-old theory proposing that autism may stem from an imbalance between two types of nerve cells in the cerebral cortex, responsible for high-level cognitive functions.

The study, led by Sergiu Pasca, a professor of psychiatry and behavioral sciences at Stanford, alongside collaborators from the University of California at San Francisco and the Icahn School of Medicine at Mount Sinai, focused on the generation and migration of interneurons by testing 425 genes associated with neurodevelopmental disorders. The research found 46 genes, about 11% of those tested, that influence the inhibitory nerve cells, potentially causing an imbalance. This imbalance is significant because it could lead to conditions like epilepsy, which is more prevalent in individuals with autism. This work represents a substantial advance in understanding the genetic and developmental underpinnings of autism, bringing researchers closer to identifying specific interventions. The technique employed by Pasca's team allowed for the simultaneous testing of all 425 genes, marking a significant advancement in screening for autism-related genetic factors.

By creating lab-grown cellular models that mimic brain structures and observing the effects of gene removal on these models, the researchers identified genes crucial for the formation and migration of interneurons. Despite the importance of genetic research in understanding autism, experts emphasize the condition's complexity and the variety of its causes, pointing out that genes are just one piece of the puzzle. Critics argue that excessive focus on genetic causes may overlook the immediate needs and challenges faced by individuals with autism and their families, highlighting a gap in services for adults with autism and the necessity for a balanced approach to research and support services.