Joseph D Buxbaum, PhD Email Joseph Buxbaum
- PROFESSOR | Psychiatry
- PROFESSOR | Neuroscience
- PROFESSOR | Genetics and Genomic Sciences
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.
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 Areas
Genetics and Genomic Sciences [GGS], Neuroscience [NEU]
BSc, Touro College
MSc, Weizmann Institute of Science
PhD, Weizmann Institute of Science
International Society for Autism Research (INSAR)
The highest honor from INSAR, this title recognizes autism researchers who have made a significant international impact on the scientific understanding of autism.
Honorary Skou Professor
Aarhus University, Denmark
This honor recognizes 50 highly esteemed researchers from around the world and emphasizes the importance of international collaboration. With this initiative hopes to introduce new perspectives to teaching, strengthen relations with leading research units abroad and establish joint research projects and funding applications.
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.
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.
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.
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.
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.
Physicians and scientists on the faculty of the Icahn School of Medicine at Mount Sinai often interact with pharmaceutical, device and biotechnology companies 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 relationships with such companies.
Below are financial relationships with industry reported by Dr. Buxbaum during 2020 and/or 2021. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
Other activities: Examples include, but are not limited to, committee participation, data safety monitoring board (DSMB) membership
- BioMed Central
- National Institutes of Health (NIH)
- Oxford University Press (OUP)
- Saladax Biomedical, Inc.
Scientific Advisory Board:
- ADNP Kids Research Foundation
- Autism Science Foundation
- Coronis Neuroscience
- Phelan McDermid Syndrome Foundation
- The Brain & Behavior Research Foundation, formerly NARSAD
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.
Physicians who provide services at hospitals and facilities in the Mount Sinai Health System might not participate in the same health plans as those Mount Sinai hospitals and facilities (even if the physicians are employed or contracted by those hospitals or facilities).
Information regarding insurance participation and billing by this physician may be found on this page, and can also be obtained by contacting this provider directly. Because physicians insurance participation can change, the insurance information on this page may not always be up-to-date. Please contact this physician directly to obtain the most up-to-date insurance information.
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