Joseph D Buxbaum, PhD
- 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
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.
Multi-Disciplinary Training AreasGenetics and Data Science [GDS], Neuroscience [NEU]
BSc, Touro College
MSc, Weizmann Institute of Science
PhD, Weizmann Institute of Science
Honorary Skou Professor
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.