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Joseph Buxbaum

  • PROFESSOR Psychiatry
  • PROFESSOR Neuroscience
  • PROFESSOR Genetics and Genomic Sciences
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Biography

    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.

Research

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

Publications

Soorya LV, Siper PM, Beck T, Soffes S, Halpern D, Gorenstein M, Kolevzon A, Buxbaum J, Wang AT. Randomized comparative trial of a social cognitive skills group for children with autism spectrum disorder. Journal of the American Academy of Child and Adolescent Psychiatry 2015 Mar; 54(3).

Browne HA, Hansen SN, Buxbaum JD, Gair SL, Nissen JB, Nikolajsen KH, Schendel DE, Reichenberg A, Parner ET, Grice DE. Familial Clustering of Tic Disorders and Obsessive-Compulsive Disorder. JAMA psychiatry 2015 Feb;.

Wang LS, Naj AC, Graham RR, Crane PK, Kunkle BW, Cruchaga C, Murcia JD, Cannon-Albright L, Baldwin CT, Zetterberg H, Blennow K, Kukull WA, Faber KM, Schupf N, Norton MC, Tschanz JT, Munger RG, Corcoran CD, Rogaeva E, Lin CF, Dombroski BA, Cantwell LB, Partch A, Valladares O, Hakonarson H, St George-Hyslop P, Green RC, Goate AM, Foroud TM, Carney RM, Larson EB, Behrens TW, Kauwe JS, Haines JL, Farrer LA, Pericak-Vance MA, Mayeux R, Schellenberg GD, Albert MS, Albin RL, Apostolova LG, Arnold SE, Barber R, Barmada MM, Barnes LL, Beach TG, Becker JT, Beecham GW, Beekly D, Bennett DA, Bigio EH, Bird TD, Blacker D, Boeve BF, Bowen JD, Boxer A, Burke JR, Buxbaum JD, Cairns NJ, Cao C, Carlson CS, Carroll SL, Chui HC, Clark DG, Cribbs DH, Crocco EA, DeCarli C, DeKosky ST, Demirci FY, Dick M, Dickson DW, Duara R, Ertekin-Taner N, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Glass JD, Graff-Radford NR, Growdon JH, Hamilton RL, Hamilton-Nelson KL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jarvik GP, Jicha GA, Jin LW, Jun G, Kamboh MI, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Kramer JH, Kramer P, LaFerla FM, Lah JJ, Leverenz JB, Levey AI, Li G, Lieberman AP, Lopez OL, Lunetta KL, Lyketsos CG, Mack WJ, Marson DC, Martin ER, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam MM, Miller BL, Miller CA, Miller JW, Montine TJ, Morris JC, Murrell JR, Olichney JM, Parisi JE, Perry W, Peskind E, Petersen RC, Pierce A, Poon WW, Potter H, Quinn JF, Raj A, Raskind M, Reiman EM, Reisberg B, Reitz C, Ringman JM, Roberson ED, Rosen HJ, Rosenberg RN, Sano M, Saykin AJ, Schneider JA, Schneider LS, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Tanzi RE, Thornton-Wells TA, Trojanowski JQ, Troncoso JC, Tsuang DW, Van Deerlin VM, Van Eldik LJ, Vardarajan BN, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Wishnek S, Woltjer RL, Wright CB, Younkin SG, Yu CE, Yu L. Rarity of the Alzheimer Disease-Protective APP A673T Variant in the United States. JAMA neurology 2015 Feb; 72(2).

Beecham GW, Dickson DW, Scott WK, Martin ER, Schellenberg G, Nuytemans K, Larson EB, Buxbaum JD, Trojanowski JQ, Van Deerlin VM, Hurtig HI, Mash DC, Beach TG, Troncoso JC, Pletnikova O, Frosch MP, Ghetti B, Foroud TM, Honig LS, Marder K, Vonsattel JP, Goldman SM, Vinters HV, Ross OA, Wszolek ZK, Wang L, Dykxhoorn DM, Pericak-Vance MA, Montine TJ, Leverenz JB, Dawson TM, Vance JM. PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease. Neurology 2015 Feb;.

Ionita-Laza I, Capanu M, De Rubeis S, McCallum K, Buxbaum JD. Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to VPS13B, a Gene Involved in Cohen Syndrome and Autism. PLoS genetics 2014 Dec; 10(12).

Kolevzon A, Bush L, Wang AT, Halpern D, Frank Y, Grodberg D, Rapaport R, Tavassoli T, Chaplin W, Soorya L, Buxbaum JD. A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome. Molecular autism 2014 Dec; 5(1).

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).

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.

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.

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.

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 http://icahn.mssm.edu/about-us/services-and-resources/faculty-resources/handbooks-and-policies/faculty-handbook. Patients may wish to ask their physician about the activities they perform for companies.

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