Ann M. Saunders, Ph.D.
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Phone - 919-684-0064

R. David Thomas Center
One Science Drive
Durham, NC 27708
Box 90344
Duke University Medical Center
Durham, NC 27710

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Adjunct Associate Professor
Department of Medicine
Division of Neurology


PhD, Duke University, 1987

BA, Vassar College, 1981

Research Description

Our primary focus is the molecular genetics of Alzheimer's disease (AD), with particular emphasis on the identification and characterization of susceptibility genes for late-onset AD. Since our initial discovery in 1993 of APOE, a strong genetic risk factor for AD, we have done extensive work in defining the association in familial and sporadic AD, most recently for use as a diagnostic adjunct in the clinic. More recently, we have focused on a polyT variant in TOMM40, physically adjacent to APOE, which has an effect on age of AD onset.

We have been involved in numerous clinical studies examining the influence of APOE and TOMM40 genotypes not only on AD, but other disease states including cognitive decline after cardiac bypass surgery (Duke Anesthesiology), onset of dementia in older individuals with Down Syndrome (NIA), AD drug therapy trials (ADC Drug Consortium Study), recovery from stroke and intracerebral hemorrhage (Duke Neurology), rheumatoid and osteoarthritis (Duke Rheumatology), onset of supranuclear palsy (NIH), susceptibility to multiple sclerosis (Duke Neurology), onset of Parkinson's disease (Duke and Northwestern Neurology) and recovery after head trauma (Duke Twin Study).

Special areas of expertise include the genetics of Alzheimer's disease, the use of APOE4 and TOMM40 genotyping as a diagnostic adjunct in the clinical setting, genetic polymorphism development and screening, susceptibility genes for complex diseases, and extraction of archival DNA fragments for PCR.

Representative Publications

Roses AD, Lutz MW, Amrine-Madsen H, Saunders AM, Crenshaw DG, Sundseth SS, Huentelman MJ, Welsh-Bohmer KA, Reiman EM. A TOMM40 variable length polymorphism predicts the age of late-onset Alzheimer’s disease.  The Pharmacogenomics Journal, (22 December 2009) doi:10.1038/tpj.2009.69 Advanced online publication.

Saunders, A.M., Hulette, C., Welsh-Bohmer, K.A., Schmechel, D.E., Crain, B., Burke, J.R., Alberts, M.J., Strittmatter, W.J., Breitner, J.C.S., Rosenberg, C., Scott, S.V., Gaskell, Jr., P.C., Pericak-Vance, M.A. and Roses, A.D. 1996. Specificity, sensitivity and predictive value of apolipoprotein E genotyping in a consecutive autopsy series of sporadic Alzheimer disease patients. The Lancet 348:90-93.

Saunders, A.M., Schmader, K., Breitner, J.C.S., Benson, M.D., Brown, W.T., Goldfarb, L., Goldgaber, D., Manwaring, M.G., Szymanski, M.H., McCown, N., Dole, K.C., Schmechel,D.E., Strittmatter, W.J., Pericak-Vance, M.A. and Roses, A.D. 1993. Apolipoprotein E4 is specific to late-onset Alzheimer disease. The Lancet 342:710-711.

Saunders, A.M., Strittmatter, W.J., Schmechel, D., St. George-Hyslop, P.H., Pericak-Vance, M.A., Joo, S.H., Rosi, B.L., Gusella, J.F., Crapper-MacLachlan, D.R., Growden, J., Alberts, M.J., Hulette, C., Crain, B., Goldgaber, D. and Roses, A.D. 1993. Association of apolipoprotein E allele e4 with late-onset familial and sporadic Alzheimer's disease. Neurology 43:1467-1472.

Corder, E.H., Saunders, A.M., Strittmatter, W.J., Schmechel, D., Gaskell, P., Small, G.W., Roses, A.D., Haines, J.L. and Pericak-Vance, M.A. 1993. Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer disease in late onset families. Science 261:921-923.

Strittmatter, W.J., Saunders, A.M., Schmechel, D., Pericak-Vance, M.A., Enghild, J., Salvesen, G.S. and Roses, A.D. 1993. Apolipoprotein E: High affinity binding to b-amyloid and increased frequency of type 4 allele in familial Alzheimer's. Proc. Natl. Acad. Sciences 90(5):1977-1981.