Joseph D. Buxbaum, PhD

Icahn School of Medicine at Mount Sinai


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.

BRAIN Funded Projects

Connecting Rare Genetic Mutations in Autism to Common Biological Pathways

Improving our understand of how changes in nerve and brain development lead to autism disorder in order to develop effective new treatments for ASD

Recent & Selected Publications

Mahjani B, De Rubeis S, Gustavsson Mahjani C, et al. Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder. Mol Autism. 2021;12(1):65. doi:10.1186/s13229-021-00465-3

Kostic A, Buxbaum JD. The promise of precision medicine in autism. Neuron. 2021;109(14):2212-2215. doi:10.1016/j.neuron.2021.06.025

De Rubeis S, Buxbaum JD. Recent advances in the genetics of autism spectrum disorder. Curr Neurol Neurosci Rep. 2015;15(6):36. doi:10.1007/s11910-015-0553-1

Buxbaum JD, Bolshakova N, Brownfeld JM, et al. The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses. Mol Autism. 2014;5:34. doi:10.1186/2040-2392-5-34

BRAIN Synchrony Symposia presentations

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