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Alison M. Goate, DPhil

Current Position
Samuel and Mae S. Ludwig Professor of Genetics in Psychiatry; Professor of Neurology; Professor of Genetics, Genetics; co-Director Hope Center Program on Protein Aggregation and Neurodegeneration; Associate Director ADRC

University Roles
Director Hope Center for Neurological Disorders, Associate Director ADRC, Co-Director Hope Center Program on Protein Folding and Neurodegenetics

Education and Training
BSc Hons D. Phil. (Oxon)

Major Awards
1994 Zenith Award, Alzheimer's Association
1994 Metropolitan Life Foundation Award for Alzheimer's disease research
1994 Potamkin Award from the American Academy of Neurology
2005 Carl & Gerty Cori Faculty Achievement Award
2012 Elected Fellow, American Association of the Advancement of Science


  

Areas of Research Interests
The principal focus of research in the Goate lab is the molecular genetics of neuropsychiatric diseases. The two major research areas are dementia (Alzheimer's disease and frontotemporal dementia) and substance dependence (alcoholism and nicotine dependence). Research falls within two areas: gene discovery and modeling disease mutations. These projects provide a wide range of training opportunities. The lab is using genetic association and exome or whole genome sequencing to identify common and rare risk alleles predisposing to late onset Alzheimer's disease. These studies are using both diagnostic phenotypes and correlated endophenotypes (e.g. CSF tau/AB levels) to localize risk genes. Genome screens for association have been completed in which several novel candidate regions/genes were identified. Follow up studies have identified specific mutations in several genes that influence risk for disease. Functional studies are underway to determine the mechanisms of disease risk.


More articles and abstracts at the National Library of Medicine

Key Publications
Cruchaga C, Kauwe JS, Mayo K, Spiegel N, Bertelsen S, Nowotny P, Shah AR, Abraham R, Hollingworth P, Harold D, Owen MM, Williams J, Lovestone S, Peskind ER, Li G, Leverenz JB, Galasko D, Alzheimer's Disease Neuroimaging Initiative, Morris JC, Fagan AM, Holtzman DM, Goate AM (2010 Sep 16). SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease. PLoS Genet. 6(9):   Full Article ->

Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, St George-Hyslop P, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk F, Mash DC, Masliah E, McCormick WC, McCurry SM, McDavid AN, McKee AC, Mesulam M, Miller BL, Miller CA, Miller JW, Parisi JE, Perl DP, Peskind E, Petersen RC, Poon WW, Quinn JF, Rajbhandary RA, Raskind M, Reisberg B, Ringman JM, Roberson ED, Rosenberg RN, Sano M, Schneider LS, Seeley W, Shelanski ML, Slifer MA, Smith CD, Sonnen JA, Spina S, Stern RA, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Williamson J, Woltjer RL, Cantwell LB, Dombroski BA, Beekly D, Lunetta KL, Martin ER, Kamboh MI, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Montine TJ, Goate AM, Blacker D, Tsuang DW, Hakonarson H, Kukull WA, Foroud TM, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Schellenberg GD (2011 May). Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nat Genet. 43(5): 436-41.  Full Article ->

Haller G, Druley T, Vallania FL, Mitra RD, Li P, Akk G, Steinbach JH, Breslau N, Johnson E, Hatsukami D, Stitzel J, Bierut LJ, Goate AM (2012 Feb 1). Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence. Hum Mol Genet. 21(3): 647-55.  Full Article ->

Cruchaga C, Haller G, Chakraverty S, Mayo K, Vallania FL, Mitra RD, Faber K, Williamson J, Bird T, Diaz-Arrastia R, Foroud TM, Boeve BF, Graff-Radford NR, St Jean P, Lawson M, Ehm MG, Mayeux R, Goate AM, NIA-LOAD/NCRAD Family Study Consortium (2012). Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. PLoS One. 7(2): e31039.  Full Article ->

Bierut LJ, Goate AM, Breslau N, Johnson EO, Bertelsen S, Fox L, Agrawal A, Bucholz KK, Grucza R, Hesselbrock V, Kramer J, Kuperman S, Nurnberger J, Porjesz B, Saccone NL, Schuckit M, Tischfield J, Wang JC, Foroud T, Rice JP, Edenberg HJ (2012 Apr). ADH1B is associated with alcohol dependence and alcohol consumption in populations of European and African ancestry. Mol Psychiatry. 17(4): 445-50.  Full Article ->

Bloom AJ, Harari O, Martinez M, Madden PA, Martin NG, Montgomery GW, Rice JP, Murphy SE, Bierut LJ, Goate A (2012 Jul 1). Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6. Hum Mol Genet. 21(13): 3050-62.  Full Article ->


Funded Research Projects
NIA(PI):Genomic Search for Susceptibility to Alzheimer's Disease
NIA(Key Personnel):Alzheimer's Disease Research Center - Genetics Core
NIAAA (SUNY)(Key Personnel):Collaborative Study on the Genetics of Alcoholism
NIA(Key Personnel):Genetics Consortium for Late Onset Alzheimer's Disease
NCI(Key Personnel):The Collaborative Genetic Study of Nicotine Dependence
NIDA(Key Personnel):The Genetics of Vulnerability to Nicotine Addictions
NIDA(Key Personnel):Case Control Candidate Gene Study of Addiction
Alzheimer's Association(PI):Molecular Mechanisms of Neurodegeneration in FTLD-U
American Health Assistance Foundation(PI):Identification of Functional Alleles that Influence Cerebrospinal Fluid Levels of A-beta and Risk for Alzheimer's Disease