Faculty : Margaret Pericak-Vance, Ph.D

Margaret Pericak-Vance, Ph.D

Dr. John T. Macdonald Foundation Professor of Human Genetics
Director, John P. Hussman Institute for Human Genomics
Executive Vice Chair, Dr. John T. Macdonald Foundation Department of Human Genetics

Dr. Pericak-Vance is the Dr. John T. Macdonald Foundation Professor of HumanGenetics, the Director of the John P. Hussman Institute for Human Genomics and Executive Vice Chair of the Dr. John T. Macdonald Foundation Department of Human Genetics.Board certified by the American Board of Medical Specialties in Medical Genetics, she is a founding fellow of the American College of Medical Genetics and an elected member of the National Academy of Medicine. Dr. Pericak-Vanceʹs laboratory made the seminal discovery of the first association of a common genetic risk variant, the apolipoprotein ε4 allele (APOE-4) for late-onset Alzheimer disease, followed closely by the identification of the APOE-2allele as a genetic protective variant for Alzheimer disease.Dr. Pericak-Vanceʹs research efforts are directed towards discovering the genetic causes of common disorders such as Alzheimer disease, as a pathway to new targets for drug discovery, treatment and prevention. Her work also focuses on addressing health disparities in genomics research.She directs several related genetic research projects, one on Alzheimer disease in African Americans and a second on Caribbean Hispanic and Amerindian populations.She alsohas active research programs in the genetics of age-related macular degeneration and autism. Dr. Pericak-Vance is the recipient of numerous awards, including the international ʺLouis Dʺ Scientific Prize from the Institut de Franceʹs Academie des Sciences for her Alzheimer disease research, the Bengt Winblad Lifetime Achievement Award from the Alzheimerʹs Association and the Snow and Ming Tsuang Lifetime Achievement Award from the International Society of Psychiatric Genetics (ISPG) for her lifelong contribution to psychiatric disease research.

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Top Publications:

•Corder EH, Saunders AM, Strittmatter WJ, Schmechel DE, Gaskell PC, Small GW, Roses AD, Haines JL, Pericak-Vance MA. Gene dose of Apolipoprotein E4 and the risk of Alzheimer’s disease in late-onset families. Science. 1993; 261:921-923. PMID: 8346443

•Corder EH, Saunders AM, Risch NJ, Strittmatter WJ, Schmechel DE, Gaskell PC Jr, Rimmler JB, Locke PA, Conneally PM, Schmader KE, Small GW, Roses AD, Haines JL, Pericak-Vance MA. Protective effect of apolipoprotein E type 2 allele for late-onset Alzheimer Disease. Nat Genet. 1994 Jun; 7(2):180-4. PMID: 7920638

•Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA. Complement factor H variant increases the risk of age-related macular degeneration. Science. 2005 Apr 15;308(5720):419-21. doi: 10.1126/science.1110359. Epub 2005 Mar 10. PMID: 15761120

•Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC… Pericak-Vance MA. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing. Nat Genet. 2019 Sep;51(9):1423-1424. PMID: 31417202

•Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Evans DA, De Jager PL, Crane PK, Buxbaum JD, Ertekin-Taner N, Barnes LL Fallin MD, Manly JJ, Go RCP, Obisesan TO, Kamboh MI, Bennett DA, Hall KS, Goate AM, Foroud TM, Martin ER, Wang LS, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C and theWriting Group for the Alzheimer’s Disease Genetics Consortium (ADGC). Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis. JAMA Neurol. 2020 Oct 19;e203536. doi: 10.1001/jamaneurol.2020.3536. Online ahead of print. PMID: 33074286