Description:

Matthew W. State MD, PhD
Oberndorf Family Distinguished Professor and Chair 
Department of Psychiatry and Behavioral Sciences 
Director, Langley Porter Psychiatric Institute
Weill Institute for Neurosciences 
University of California, San Francisco 

More than a decade of progress in genetics and genomics and rapid advances in human neuroscience are driving clinical translation to an inflection point for those most severely affected with autism spectrum disorders (ASD). Individuals with ASD, minimal or absent language, co-occurring intellectual disability, and the requirement for 24-hour care are increasingly being considered as a distinctive clinical cohort — and are serving as the basis for a proposed new formal diagnostic category of Profound Autism. These individuals, who collectively constitute about a quarter of the ASD clinical population, share an increased rate of rare, large-effect, often de novo genetic mutations, pointing to specific high-confidence risk genes contributing to their clinical syndrome(s). 
This presentation will provide an update on the current understanding of the genetic contribution to profound ASD, describe how the discovery of large-effect risk genes is creating distinctive opportunities for therapeutic development, and delineate some of the major ongoing challenges to leveraging these advances to drive transformation in the clinic. The talk with also describe the roadmap for a new philanthropic initiative aimed at creating an international clinical-translational ecosystem supporting rapid progress in assessing and caring for those most severely impaired on the autism spectrum.