What do we study?

Our research focuses on the genetics of neurodevelopment. We currently study the genetic makeup of people with neurodevelopmental and neurospychiatric disorders such as autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), dyslexia, and bipolar disorder. We also study the genetics of structural brain malformations, specifically perivetricular nodular heterotopia (PVNH), and thoracic aortic aneurysm and dissection (TAAD), a related cardiac disease. Using next generation sequencing, we aim to identify coding and noncoding germline and somatic mosaic mutations, such as those that may alter splicing or affect promoter and enhancer activity. By studying both coding and noncoding regions of the genome, we hope to better understand complex neurodevelopmental disorders and elucidate the genetic mechanisms governing brain development in humans.