Autism is one of several conditions that fall under the general category of autism spectrum disorders (ASD). Autism is a neurodevelopmental condition characterized by differences in social interactions and communication, as well as the presence behaviors often involving strong restricted interests or repetitive patterns. Twin, sibling, and family studies have demonstrated a strong role for genetic factors underlying autism. Previous studies in large families and autism-typical neuro-developing populations have identified a large number of genes and genetic variants that are associated with the development of autism.
Researchers at the John P. Hussman Institute for Human Genomics (HIHG) are continuing to conduct studies to understand the genetic basis of autism and how these genes and genetic variants act to alter neuronal function leading to the behavioral characteristics seen in autism. Recent studies utilizing cutting edge DNA sequencing technologies have identified numerous genetic mutations that appear to be involved in autism suggesting that, in most cases, rare variants in genes are driving development of autism. These rare variants tend to fall into classes of genes that regulate neuronal function by altering the balance between excitatory and inhibitory signals in the brain. Using novel, patient-derived stem cell models, termed induced pluripotent stem cells, researchers at the HIHG are working to understand how genetic variants are altering the function of key autism-associated cell types, in particular cortical neurons, providing a better understanding of the complex biology that underlies this common disorder. By finding the genetic factors that cause autistic disorders and understanding how these factors alter brain cell function, HIHG researchers hope to gain valuable insights into how autism develops with the goal of improving diagnostic and treatment approaches.