Autism Research lectures are open to the public and are held at the Gerald D. Fischbach Auditorium at the Simons Foundation headquarters in New York City. Tea is served prior to each lecture.
Autism and epilepsy are often comorbid disorders with overlapping epidemiology, genetics, clinical features, neuroanatomic abnormalities and neurophysiological mechanisms. Defining the genetics and clinical features of individuals with comorbid autism and epilepsy is ongoing, and development of genotype-phenotype correlations has just begun. Understanding shared and distinct mechanisms underlying autism and epilepsy is likely to improve prognosis, therapy and prevention.
Tremendous progress has been made in our understanding of autism, with major contributions coming from a variety of research fields, including genetics, neuroscience and psychology. Other changes afoot include a revamping of the clinical definition of autism in the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders. Such evolutions in conceptual views of autism in turn affect the future of autism research, and the development of interventions.
The genetics and genomics of autism spectrum disorders have reached a tipping point. The recent focus on de novo mutations has led to systematic, highly productive gene discovery efforts. These have begun to clarify a tremendously heterogeneous allelic architecture as well as specific genes contributing to social disability syndromes. This lecture will review these recent discoveries and address the challenges facing the path forward from reliable gene discovery to an actionable understanding of the molecular pathophysiology of autism spectrum disorders.