Joseph D Buxbaum, PhD
img_Joseph D Buxbaum
PROFESSOR | Psychiatry
PROFESSOR | Neuroscience
PROFESSOR | Genetics and Genomic Sciences
Research Topics
Alzheimer's Disease, Autism, Behavior, Demyelination, Gene Regulation, Genetics, Genomics, Human Genetics and Genetic Disorders, Knockout Mice, Metastasis, Microarray, Molecular Biology, Myelination, Neurobiology, Protein Structure/Function, Schizophrenia, Signal Transduction, Stem Cells, Synapses, Synaptic Plasticity, Synaptogenesis, Transgenic Mice
Multi-Disciplinary Training Area
Genetics and Genomic Sciences [GGS], Neuroscience [NEU]

In the News

In 2010, Dr. Buxbaum co-founded the Autism Sequencing Consortium (ASC), an international group of scientists who share autism samples and data. Today, he co-leads the ASC, which recently published a paper in Cell that identified 102 genes associated with risk for autism.

The largest autism sequencing study to date was highlighted in the NIH Director's blog and featured in TIME, USA Today, and many more outlets.

Laboratory of Molecular Neuropsychiatry
The laboratory of Molecular Neuropsychiatry studies human psychiatric and neurological diseases using the methods of genetics, genomics, cell and molecular biology and animal models. Current laboratory focus includes autism, schizophrenia and Alzheimer's disease.

Autism
In autism, we are using techniques of molecular genetics to identify, and ultimately characterize, genes that contribute to autism susceptibility. Using population-based gene mapping studies (including linkage and association studies), we have identified a region on chromosome 2 that appears to harbor an autism susceptibility gene. In that region, we have identified an aspartate-glutamate carrier (AGC1) that appears to contribute to autism susceptibility. We are characterizing AGC1 functionally using cell and animal models, while continuing to study it genetically. We are also working with a large consortium to identify additional autism susceptibility genes. These studies implicate neuronal cell adhesion molecules and synaptic proteins in autism and we are developing mouse models that can recapitulate aspects of the disorders.

Schizophrenia
In schizophrenia, we are following up on microarray studies that implicate oligodendrocyte abnormalities and offer the first cell based explanation for the disease. Microarray studies carried out at Mount Sinai demonstrated a reduction in schizophrenia of genes associated with oligodendrocytes. This finding has been replicated in multiple independent laboratories. These observations, coupled with more recent observations identifying neuregulin as a susceptibility gene for schizophrenia, have led us to postulate an oligodendrocyte etiology to schizophrenia. We are making use of cell biological and animal model to follow up on this initial observation. We are also testing these genes for genetic association with schizophrenia.

Alzheimer's Disease
In Alzheimer's disease, we are interested in the biological functions of the Alzheimer amyloid protein precursor (APP) as it apparently regulates transcription via a signal transduction process. We are looking at this process to identify which genes are regulated by APP. Moreover, we are interested in characterizing the function of the protein calsenin, and related calsenin-like protein (CALP), as they may be involved in the cleavage of APP and hence modulate the accumulation of the amyloid Abeta protein, which is pathological in Alzheimer's disease.
Trainee information

Trainees have the opportunity to join these projects and participate in the molecular analysis of these common neurological diseases, using state-of-the-art biochemical, molecular and cell biological techniques. RNA profiling and other genome-based techniques are also used to identify changes in gene and protein expression in the brains of individuals with these disorders.

BSc, Touro College

MSc, Weizmann Institute of Science

PhD, Weizmann Institute of Science

2019

INSAR Fellow

International Society for Autism Research (INSAR)

2019

Honorary Skou Professor

Aarhus University, Denmark

Publications

Selected Publications

Psychometric properties of the Spanish Yale-Brown Obsessive-Compulsive Scale – Second Edition. Eric A. Storch, Jessica SC Cheng, Miranda Higham, Josselyn S. Muñoz, Vanessa Zavala Cruz, Dayan Berrones, Diana P. Obando, Jacey L. Anderberg, Renee M. Frederick, Vissente Tapia-Cuevas, Macarena Churruca Muñoz, Constanza Uribe Villar, Pablo R. Moya, Marcos E. Ochoa-Panaifo, Mayra C.Martinez Mallen, Andrew D. Wiese, Caitlin M. Pinciotti, Melisa N. Sagarnaga, Joseph F. McGuire, Ogechi C. Onyeka, María B. Moyano, Victor R. Adorno, Victoria Agostini, William W. Aguilar, Cinthia Aguirre, Valentina Alvarado-Quiroz, Na Eshia Ancalade, Jacey L. Anderberg, Diego Aponte, Alejandro A.Arellano Espinosa, Paul D. Arnold, Eimmy Y. Ascencio-Chicana, Elizabeth G. Atkinson, Jose N. Ayala, Hala Aziz, Tania L.Barbieri Aguirre, Cynthia N. Barrera, Julian A.Barrero Contreras, Kelly Barry, Amanda N. Belanger, Laura M. Benitez, Dayan Berrones, John R. Best, Tim B. Bigdeli, Hemamalini Bommiasamy, Tania Borda, Joseph D. Buxbaum, Dorothy E. Grice, Jessica S. Johnson, Carolina Cappi. Psychiatry Research

Contribution of autosomal rare and de novo variants to sex differences in autism. Mahmoud Koko, F. Kyle Satterstrom, Branko Aleksic, Mykyta Artomov, Mafalda Barbosa, Elisa Benetti, Catalina Betancur, Monica Biscaldi-Schafer, Anders D. Børglum, Harrison Brand, Alfredo Brusco, Joseph D. Buxbaum, Gabriele Campos, Simona Cardaropoli, Diana Carli, Angel Carracedo, Marcus C.Y. Chan, Andreas G. Chiocchetti, Brian H.Y. Chung, Brett Collins, Ryan L. Collins, Edwin H. Cook, Hilary Coon, Claudia I.S. Costa, Michael L. Cuccaro, David J. Cutler, Mark J. Daly, Silvia De Rubeis, Bernie Devlin, Ryan N. Doan, Enrico Domenici, Shan Dong, Chiara Fallerini, Montserrat Fernández-Prieto, Giovanni Battista Ferrero, Christine M. Freitag, Jack M. Fu, J. Jay Gargus, Sherif Gerges, Elisa Giorgio, Ana Cristina Girardi, Stephen Guter, Emily Hansen-Kiss, Gail E. Herman, Irva Hertz-Picciotto, David M. Hougaard, Alexander Kolevzon, Behrang Mahjani, Abraham Reichenberg, Sven Sandin. American Journal of Human Genetics

Adolescents and adults with FOXP1 syndrome show high rates of anxiety and externalizing behaviors but not psychiatric decompensation or skill loss. Tess Levy, Hailey Silver, Renee Soufer, Audrey Rouhandeh, Alexander Kolevzon, Joseph D. Buxbaum, Paige M. Siper. Frontiers in Psychiatry

View All Publications

Joseph D Buxbaum, PhD, Vice Chair for Research
Genetics and Neurodevelopmental Disorders | 2019 Advances in Autism Conference
Employee Spotlight - Joseph Buxbaum, PhD