Joseph Buxbaum, Ph.D.

Professor, Icahn School of Medicine at Mount Sinai

SFARI Investigator, SFARI Scientific Review Board Website

Joseph Buxbaum is the G. Harold and Leila Y. Mathers Research Professor of Psychiatry, Neuroscience and Genetics and Genomic Sciences, the head of the laboratory of molecular neuropsychiatry, vice chair for research in the Department of Psychiatry, and director of the Seaver Autism Center for Research and Treatment at Mount Sinai.

Buxbaum’s research uses techniques of molecular genetics and neurobiology to identify and ultimately characterize genes that contribute to autism spectrum disorder (ASD) susceptibility. His laboratory has identified common and rare genetic variants that underlie ASD and has developed model systems in which novel therapeutics can be tested. In addition, Buxbaum has taken a lead in several international consortia, most recently the Autism Sequencing Consortium, which aims to sequence 20,000 exomes and advance research in ASD. He is the author of more than 200 publications and co-editor-in-chief of the journal Molecular Autism.

Funded Projects

ASD gene therapy: Large-scale evaluation of small-molecule targeting of RNA for ASD therapeutics

Awarded: 2024
Award Type: Pilot

Integrating large-scale whole-exome data with whole-genome data

Awarded: 2015
Award Type: Targeted: Whole-Genome Analysis for Autism Risk Variants

The role of SHANK3 in autism spectrum disorders

Awarded: 2008
Award Type: Research

SFARI Funded Publications

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations. Avila M.N., Jung S., Satterstrom F.K., Fu J.M., Levy T., Sloofman L.G., Klei L., Pichardo T., Stevens C.R., Cusick C.M., Ames J.L., Campos G.S., Cerros H., Chaskel R., Costa C.I.S., Cuccaro M.L., Del Pilar Lopez A., Fernandez M., Ferro E., Galeano L., Girardi A.C.D.E.S., Griswold A.J., Hernandez L.C., Lourenço N., Ludena Y., Nuñez D.L., Oyama R., Peña K.P., Pessah I., Schmidt R., Sweeney H.M., Tolentino L., Wang J.Y.T., Albores-Gallo L., Croen L.A., Cruz-Fuentes C.S., Hertz-Picciotto I., Kolevzon A., Lattig M.C., Mayo L., Passos-Bueno M.R., Pericak-Vance M.A., Siper P.M., Tassone F., Trelles M.P., Autism Sequencing Consortium, Talkowski M., Daly M., Mahjani B., De Rubeis S., Cook E. H., Roeder K., Betancur C., Devlin B., Buxbaum J.

Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach. Caballero M., Satterstrom F.K., Buxbaum J., Mahjani B.

KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design. Yang Y., Wang C., Liu L., Buxbaum J., He Z., Ionita-Laza I.