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Alison Goate

  • SENIOR FACULTY Neuroscience
  • SENIOR FACULTY Neurology
  • SENIOR FACULTY Genetics and Genomic Sciences
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Education

  • B.Sc., Hons., University of Bristol

  • D.Phil., Linacre College, University of Oxford

  • Postdoctoral Research Fellow, St. Mary's Hospital Medical School, Imperial College

  • Postdoctoral Research Fellow, Eleanor Roosevelt Institute for Cancer Research

  • Postdoctoral Research Fellow, Institute of Neurology, University College London

Biography

    Dr. Alison Goate is a Professor of Neuroscience,  and Director of the Center on Alzheimer's Disease. Her laboratory studies the molecular genetics of dementias and addiction in human populations.

Awards

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    St. Louis Academy of Science Innovation Award

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    Potamkin Prize for Alzheimer's disease research

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    Senior Investigator Award, Metropolitan Life Foundation

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    Royal Society University Research Fellow

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    Carl & Gerty Cori Faculty Achievement Award

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    Zenith Award, Alzheimer's Association

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    Elected Fellow, American Association for the Advancement of Science

Research

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Research in our laboratory focuses on dementia (Alzheimer's disease & frontotemporal dementia) and addiction (alcohol dependence). In each of these projects our goal is to understand the molecular basis of disease in order to identify novel targets for therapeutic development. We use genetic and genomic approaches to identify susceptibility alleles, this work includes genome wide association studies and whole genome/exome sequencing in families multiply affected by disease and in case control cohorts. We have also pioneered the use of endophenotypes to uncover both risk and protective alleles in both our Alzheimer's disease and our alcoholism studies. We have developed induced pluripotent stem cells from individuals with known genetic causes of disease in order to model the effects of these mutations in disease relevant cell types. Functional studies are being undertaken to understand the role of phospholipase D3 variants in Alzheimer's Disease risk, tau mutations in frontotemporal dementia and alpha 5 nicotinic receptor variants in addiction.

For more information, please visit Dr Goate's lab: Genetics of Neuropsychiatric Disease

Publications

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, Hardy J, Ryten M, Trabzuni D, Weale ME, Ramasamy A, Smith C, Sassi C, Bras J, Gibbs JR, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K, Passmore P, Craig D, Johnston J, McGuinness B, Todd S, Heun R, Kölsch H, Kehoe PG, Hooper NM, Vardy ER, Mann DM, Pickering-Brown S, Brown K, Kalsheker N, Lowe J, Morgan K, David Smith A, Wilcock G, Warden D, Holmes C, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton AB, Hardy J, Kamboh MI, St George-Hyslop P, Cairns N, Morris JC, Kauwe JS, Goate AM. Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature 2014 Jan; 505(7484).

Benitez BA, Karch CM, Cai Y, Jin SC, Cooper B, Carrell D, Bertelsen S, Chibnik L, Schneider JA, Bennett DA, Fagan AM, Holtzman D, Morris JC, Goate AM, Cruchaga C. The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers. PLoS genetics 2013; 9(8).

Karch CM, Goate AM. Alzheimer's Disease Risk Genes and Mechanisms of Disease Pathogenesis. Biological psychiatry 2014 May;.

Karch CM, Cruchaga C, Goate AM. Alzheimer's disease genetics: from the bench to the clinic. Neuron 2014 Jul; 83(1).

Kapoor M, Wang JC, Wetherill L, Le N, Bertelsen S, Hinrichs AL, Budde J, Agrawal A, Almasy L, Bucholz K, Dick DM, Harari O, Xiaoling X, Hesselbrock V, Kramer J, Nurnberger JI, Rice J, Schuckit M, Tischfield J, Porjesz B, Edenberg HJ, Bierut L, Foroud T, Goate A. Genome-wide survival analysis of age at onset of alcohol dependence in extended high-risk COGA families. Drug and alcohol dependence 2014 Sep; 142.

Wang JC, Spiegel N, Bertelsen S, Le N, McKenna N, Budde JP, Harari O, Kapoor M, Brooks A, Hancock D, Tischfield J, Foroud T, Bierut LJ, Steinbach JH, Edenberg HJ, Traynor BJ, Goate AM. Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry. PloS one 2013; 8(11).

Haller G, Kapoor M, Budde J, Xuei X, Edenberg H, Nurnberger J, Kramer J, Brooks A, Tischfield J, Almasy L, Agrawal A, Bucholz K, Rice J, Saccone N, Bierut L, Goate A. Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence. Human molecular genetics 2014 Feb; 23(3).

Kapoor M, Wang JC, Wetherill L, Le N, Bertelsen S, Hinrichs AL, Budde J, Agrawal A, Bucholz K, Dick D, Harari O, Hesselbrock V, Kramer J, Nurnberger JI, Rice J, Saccone N, Schuckit M, Tischfield J, Porjesz B, Edenberg HJ, Bierut L, Foroud T, Goate A. A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks. Human genetics 2013 Oct; 132(10).

Cruchaga C, Kauwe JS, Harari O, Jin SC, Cai Y, Karch CM, Benitez BA, Jeng AT, Skorupa T, Carrell D, Bertelsen S, Bailey M, McKean D, Shulman JM, De Jager PL, Chibnik L, Bennett DA, Arnold SE, Harold D, Sims R, Gerrish A, Williams J, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD, Peskind ER, Galasko D, Fagan AM, Holtzman DM, Morris JC, Goate AM. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer's disease. Neuron 2013 Apr; 78(2).

Karch CM, Jeng AT, Goate AM. Extracellular Tau levels are influenced by variability in Tau that is associated with tauopathies. The Journal of biological chemistry 2012 Dec; 287(51).

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.

Dr.Goate is not currently required to report Industry relationships.

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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