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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
University Roles
Hope Center Faculty, 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
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: association studies and modeling disease mutations. These projects provide a wide range of training opportunities. The lab is using genetic association strategies to identify loci predisposing to late onset Alzheimer's disease, alcoholism and nicotine dependence. 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.
Key Publications
Wang JC, Grucza R, Cruchaga C, Hinrichs AL, Bertelsen S, Budde JP, Fox L, Goldstein E, Reyes O, Saccone N, Saccone S, Xuei X, Bucholz K, Kuperman S, Nurnberger J Jr, Rice JP, Schuckit M, Tischfield J, Hesselbrock V, Porjesz B, Edenberg HJ, Bierut LJ, Goate AM (2008 Apr 15). Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence. Mol Psychiatry. Full Article ->
Mukherjee O, Wang J, Gitcho M, Chakraverty S, Taylor-Reinwald L, Shears S, Kauwe JS, Norton J, Levitch D, Bigio EH, Hatanpaa KJ, White CL, Morris JC, Cairns NJ, Goate A (2008 Apr). Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia. Hum Mutat. 29(4): 512-21. Full Article ->
Kauwe JS, Jacquart S, Chakraverty S, Wang J, Mayo K, Fagan AM, Holtzman DM, Morris JC, Goate AM (2007 May). Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation. Ann Neurol. 61(5): 446-53. Full Article ->
Kauwe JS, Cruchaga C, Mayo K, Fenoglio C, Bertelsen S, Nowotny P, Galimberti D, Scarpini E, Morris JC, Fagan AM, Holtzman DM, Goate AM (2008 Jun 10). Variation in MAPT is associated with cerebrospinal fluid tau levels in the presence of amyloid-beta deposition. Proc Natl Acad Sci U S A. 105(23): 8050-4. Full Article ->
Bierut LJ, Stitzel JA, Wang JC, Hinrichs AL, Grucza RA, Xuei X, Saccone NL, Saccone SF, Bertelsen S, Fox L, Horton WJ, Breslau N, Budde J, Cloninger CR, Dick DM, Foroud T, Hatsukami D, Hesselbrock V, Johnson EO, Kramer J, Kuperman S, Madden PA, Mayo K, Nurnberger J Jr, Pomerleau O, Porjesz B, Reyes O, Schuckit M, Swan G, Tischfield JA, Edenberg HJ, Rice JP, Goate AM (2008 Sep). Variants in the nicotinic receptors alter the risk for nicotine dependence. Am J Psychiatry. 165(9): 1163-71. 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
Fidelity Foundation(PI):Pittsburgh Compound B: A Quantitative Endophenotype for Genetic Studies of AD Risk
NCI(Key Personnel):The Collaborative Genetic Study of Nicotine Dependence
NINDS(Key Personnel):Washington University Center for Translational Neuroscience (Core F)
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
NIMH(Key Personnel):Risk Genes for Late-Life Depression after Hip Fracture
American Health Assistance Foundation(PI):Identification of Functional Alleles that Influence Cerebrospinal Fluid Levels of A-beta and Risk for Alzheimer's Disease