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]
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

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. Tess Levy, Jacob Gluckman, Paige M. Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J. Lloyd Holder, M. Pilar Trelles, Kristina Johnson, Jonathan A. Bernstein, Elizabeth Berry-Kravis, Craig M. Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D. Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava. Journal of Neurodevelopmental Disorders

Genome-Wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome. Fotis Tsetsos, Apostolia Topaloudi, Pritesh Jain, Zhiyu Yang, Dongmei Yu, Petros Kolovos, Zeynep Tumer, Renata Rizzo, Andreas Hartmann, Christel Depienne, Yulia Worbe, Kirsten R. Müller-Vahl, Danielle C. Cath, Dorret I. Boomsma, Tomasz Wolanczyk, Cezary Zekanowski, Csaba Barta, Zsofia Nemoda, Zsanett Tarnok, Shanmukha S. Padmanabhuni, Joseph D. Buxbaum, Dorothy Grice, Jeffrey Glennon, Hreinn Stefansson, Bastian Hengerer, Evangelia Yannaki, John A. Stamatoyannopoulos, Noa Benaroya-Milshtein, Francesco Cardona, Tammy Hedderly, Isobel Heyman, Chaim Huyser, Pablo Mir, Astrid Morer, Norbert Mueller, Alexander Munchau, Kerstin J. Plessen, Cesare Porcelli, Veit Roessner, Susanne Walitza, Anette Schrag, Davide Martino, Cathy L. Barr, James R. Batterson, Cheston Berlin, Cathy L. Budman, Giovanni Coppola, Nancy J. Cox, Sabrina Darrow, Yves Dion. Biological Psychiatry

KnockoffHybrid: A knockoff framework for hybrid analysis of trio and population designs in genome-wide association studies. Yi Yang, Qi Wang, Chen Wang, Joseph Buxbaum, Iuliana Ionita-Laza. American Journal of Human Genetics

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

Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device, biotechnology companies, and other outside entities to improve patient care, develop new therapies and achieve scientific breakthroughs. In order to promote an ethical and transparent environment for conducting research, providing clinical care and teaching, Mount Sinai requires that salaried faculty inform the School of their outside financial relationships.

Below are financial relationships with industry reported by Dr. Buxbaum during 2023 and/or 2024. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Consulting or Other Professional Services Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership

  • BridgeBio

Mount Sinai's faculty policies relating to faculty collaboration with industry are posted on our website. Patients may wish to ask their physician about the activities they perform for companies.