Ann Marie Saunders
Adjunct Associate Professor in the Department of Neurology

The primary focus of the laboratory is the molecular genetics of Alzheimer's disease (AD), with particular emphasis on the identification and characterization of genetic susceptibility genes for late-onset AD. Since our initial discovery in 1993 of 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. We are also actively testing candidate genes for chromosome 12 following our Center's discovery of strong evidence for another genetic risk factor in the region surrounding the centromere. We have also initiated studies of the DNA binding elements regulating the transcriptional expression of APOE mRNA in the central nervous system.

In the laboratory, we employ a variety of molecular genetic and biological techniques, including PCR, RT-PCR, restriction fragment genotyping, SSCP, DNA and RNA sequencing, gel electrophoresis, gene expression assays, and RFLP analysis. We also use a variety of techniques to extract genomic DNA from whole blood, frozen tissue, buccal samples and paraffin-embedded brain.

We have been involved in numerous clinical studies examining the influence of APOE genotypes not only on AD, but other disease states including cognitive decline after cardiac bypass surgery (Duke Anesthesiology), onset of dementia in older Down Syndrome (NIA), AD drug therapy trials (ADC Drug Consortium Study), recovery from stroke and intracerebral hemorrhage (Duke Neurology), rheumatoid and osteo-arthritis (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 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.

Current Appointments & Affiliations

Contact Information

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

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