This presentation summarizes the status of genetic discovery in ASD, and give examples of how gene discovery can contribute to novel therapeutics.

There have been significant strides in identifying both rare and common genetic variants that are associated with ASD. More than 100 genes have been identified that, when mutated with rare deleterious variants, are associated with high risk for ASD and associated disorders.

These genes, and the associated mutations, can be studied in model systems to provide windows into the biology processes that lead to ASD. Such insights, in turn, can lead to novel therapeutic approaches for these rare genetic disorders. Genetics, therefore, provides one mechanism to stratify ASD subjects and to develop precision medicine approaches.

Joseph D. Buxbaum, PhD is a Professor of Psychiatry, Genetics and Genomic Sciences, and Neuroscience, and serves as the Director of the Seaver Autism Center for Research and Treatment and is Vice Chair for Research and for Mentoring in the Department of Psychiatry.

Dr. Buxbaum is a molecular neuroscientist whose research aims to understand the molecular and genetic basis of autism spectrum disorder and associated neurodevelopmental disorders, with the goal of developing novel therapeutics.

Dr. Buxbaum is a founder and communicating Principal Investigator of the Autism Sequencing Consortium, currently analyzing whole exome sequencing from 50,000 individuals to identify ASD genes. In addition, his lab has numerous human stem cell lines ongoing and has characterized more than a dozen rodent models for ASD and associated disorders.

Dr. Buxbaum received his BSc in Math and Biology from Touro College, and his MSc and PhD in Neurobiology from the Weizmann Institute of Science in Israel. Dr. Buxbaum completed a Postdoctoral Fellowship in Molecular and Cellular Neuroscience at the Rockefeller University and was elected to the National Academy of Medicine in 2015.


#genetics #therapeutics #treatments #drugdiscovery #scientificprogress


This talk was part of Synchrony 2020 Online Symposium - 'From Bench to Biopharma', organised in partnership with UC Davis MIND Institute and CalTech. For more Synchrony 2020 talks: https://www.youtube.com/playlist?list=PLDtO9h17tcWcRGZHOgtNG9YMJ7BJkO6VR


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Synchrony https://synchronysymposium.com/ is the first and only international symposium on translational research in #autism, that brings together academia, #biotech, pharmaceutical companies and #venture partners from around the world with the mission to improve health and quality of life of people with #autismspectrumdisorder

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The BRAIN Foundation https://brainfoundation.org/ is a 501c(3) non-profit. The founders of BRAIN envision a world where every child and adult on the autism spectrum is healthy, participates fully in education and employment, and has a better quality of life. It aims to catalyze research that results in evidence-based interventions for the disabilities associated with autism, and also results in better medical standard of care. To accomplish this, it funds impactful research through #philanthropy and our network of partners in the venture, corporate, and grassroots community.