Autism Spectrum Disorders (ASDs) are a group of prevalent neurodevelopmental disorders. They are characterized by problems with social engagement and communication, inappropriate repetitive actions, perseverative behaviors, and a range of associated symptoms, including sensory and motor abnormalities, intellectual disability, and mood disorders (Delorme et al., 2013). Studies in families demonstrate that ASDs have a strong genetic heritability component (Folstein and Rosen-Sheidley, 2001; Miles, 2011). Single gene mutations are associated with approximately 5% of cases (De Rubeis et al., 2014) and approximately 10% of cases are associated with copy number variations (Matsunami et al., 2013); but in the vast majority of cases the genetics remain unknown (Miles, 2011). The application of whole exome sequencing of patient DNA has identified many rare de novo mutations associated with autism, but establishing the effect of these mutations on brain development and function is still at an early stage. Many of these genetic mutations associated with autism converge upon synaptic and neuronal development abnormalities that are the basis for the aberrant behavioral phenotypes and other symptoms of the disorder (Delorme et al., 2013; De Rubeis et al., 2014).
|Effective start/end date||11/1/18 → 10/31/21|
- Simons Foundation (572078)