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Joseph Buxbaum

  • PROFESSOR Psychiatry
  • PROFESSOR Genetics and Genomic Sciences
  • PROFESSOR Neuroscience
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    In the News

    Dr. Buxbaum discusses autism care in The Daily News feature The Daily Check Up.
    View the PDF.

    Dr. Buxbaum discusses treating autism in The Daily News feature The Daily Check Up.


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.

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 ingene and protein expression in the brains of individuals with these disorders.


Gotham k, Risi s, Dawson g, Tager-Flusberg h, Joseph r, Carter a, Hepburn s, McMahon w, Rodier p, Hyman sl, Sigman m, Rogers s, Landa r, Spence ma, Osann k, Flodman p, Volkmar f, Hollander e, Buxbaum j, Pickles a, Lord c. A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. J Am Acad Child Adolesc Psychiatry 2008; 47.

Elder ga, Ragnauth a, Dorr n, Franciosi s, Schmeidler j, Haroutunian v, Buxbaum jd. Increased locomotor activity in mice lacking the low-density lipoprotein receptor. Behav Brain Rsrch 2008; 191.

Ramoz n, Cai g, Reichert jg, Silverman jm, Buxbaum jd. An analysis of candidate autism loci on chromosome 2q24-q33: Evidence for association to the STK39 gene. Neuropsychiatr Genet 2008;.

Ikin af, Causevic m, Pedrini s, Benson ls, Buxbaum jd, Suzuki t, Lovestone s, Higashiyama s, Mustelin t, Burgoyne rd, Gandy s. Evidence against roles for phorbol binding protein Munc13-1, ADAM adaptor Eve-1, or vesicle trafficking phosphoproteins Munc18 or NSF in phorbol/PKC-activated Alzheimer APP ectodomain shedding. Mol Neurodegener 2007;.

Lepagnol-Bestel am, Maussion g, Boda b, Cardona a, Iwayama y, Delezoide al, Moalic jm, Muller d, Dean b, Yoshikawa t, Gorwood p, Buxbaum jd, Ramoz n, Simonneau m. SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects. Mol. Psych 2008; 13.

Elder ga, Cho jy, English df, Franciosi s, Schmeidler j, Gama Sosa ma, De Gasperi r, Fisher ea, Mathews pm, Haroutunian v, Buxbaum jd. Elevated plasma cholesterol does not affect brain AB in mice lacking the low-density lipoprotein receptor. J. Neurochem 2007; 102.

Buxbaum jd, Georgieva l, Young jj, Plescia c, Kajiwara y, Jiang y, Moskvina v, Norton n, Peirce t, Williams h, Craddock nj, Carroll l, Corfas g, Davis kl, Owen mj, Harroch s, Sakurai t, O'Donovan mc. Molecular dissection of NRG1-ERBB4 signalling implicates PTPRZ1 as a potential schizophrenia susceptibility gene. Mol. Psych 2008; 13.

Ikin af, Sabo sl, Lanier lm, Buxbaum jd. A macromolecular complex involving the amyloid precursor protein (APP) and the cytosolic adapter FE65 is a negative regulator of axon branching. Mol. Cell. Neurosci 2007; 35.

Buxbaum jd, Cai g, Chaste p, Nygren g, Goldsmith j, Reichert j, Anckarsater h, Rastam m, Smith cj, Silverman jm, Hollander e, Leboyer m, Gillberg c, Verloes a, Betancur c. Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. Neuropsych. Genet 2007; 144.

T. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nat. Genet 2007; 39.

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Ercument Cicek A, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu SC, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Crooks L, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Sean Hill R, Ionita-Laza I, Jimenez Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Wang LS, Weiss LA, Jeremy Willsey A, Yu TW, Yuen RK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barrett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 2014 Nov; 515(7526).

Industry Relationships

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 2014 and/or 2015. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.

Royalty Payments:

  • Covance; Millipore; Saladax Biomedical, Inc.

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

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