One of the global leaders in the genetics of neurodegenerative diseases Margaret Pericak-Vance, director of the Center for Human Genetics at Duke University, has led her team in the discovery of new genes involved in Alzheimer's and Parkinson's diseases.
Her most recent research on a common gene between both disorders affecting age onset has most recently named her a member of the National Academy's Institute of Medicine.
Pericak-Vance, a James B. Duke Professor of Medicine, has been involved in many innovative research projects, especially on Alzheimer's Disease, her field of expertise. Her most current research involves the integration of genomic and statistical technologies and their applications to diseases of general public health importance and to various neurological diseases.
Through a process known as Genomic Convergence, she and her husband Dr. Jeffery Vance developed an approach that combines two or more different genomic techniques to improve the significance of results, her team identified the novel gene GSTO1, a genetic determinant for the age onset of both Alzheimer's and Parkinson's diseases.
With further study of the gene, scientists may ascertain how to control age onset and thus, possibly prevent the triggering of symptoms despite having an underlying risk. This would provide a more effective treatment than controlling the resultant symptoms of the diseases. Pericak-Vance claims that her research will give the pharmaceutical companies ideas for possible drug research. "We have outlined various targets in the pathway for developing medications for the treatment of Alzheimer's and Parkinson's diseases," she said.
The idea of looking at expression-modifier genes is still relatively new and may be applicable to other areas of science and medicine. Alzheimer's Disease results in progressive memory loss and in 90 percent of the cases, onset generally occurs in patients over the age of 60. While lifetime risk is between 10-15 percent for the general population, 50 percent of those over 85 years of age will develop Alzheimer's. It occurs worldwide and affects multiple ethnicities but scientists have not yet established successful treatments.
Parkinson's Disease usually develops at around 60 years of age. Currently, there are approximately 500,000 cases in the United States with an estimated 10 percent family history influence. Afflicted patients suffer from uncontrollable tremors and muscle rigidity. There are drugs to treat this disease but due to their side effects, cannot be used for long periods of time.
As the second director of the Center for Human Genetics, Pericak-Vance is proud of her accomplishments. "I have the brightest faculty and one of the highest percentages of women of any center at Duke," she said. "They are all highly successful in their research and work well in an extraordinarily collaborative field."
Human genetics requires the intellectual input from numerous fields such as opthamology, psychology, surgery, cardiology, oncology, nephrology and bioinformatics, as well as the collaboration with other institutions including Harvard, Indiana, Northwestern, UCLA and Vanderbilt Universities.
"It takes so much effort to tackle a global concern. We are now in the era of big science," said Pericak-Vance. "This is not how science was done previously and we need a lot of people. No one thought studying age onset was possible. We need to constantly push to make a difference and always try something new."
Currently, Pericak-Vance plans on focusing her attention on gene-gene interactions within Alzheimer's Disease, as well as on autism. Duke has one of the largest genetic centers for autism research and she hopes to use its resources to determine the genetic causes and reasons for its largely inherited component. She also plans to continue her role as a nationally and internationally hosted lecturer.
After receiving her Ph.D. in Medical Genetics from Indiana University, she began her training as a postdoctoral student at the University of North Carolina at Chapel Hill under the distinguished Statistical Genetician Robert Elston. Several years later she transferred to Duke to study muscular dystrophy.
"Peggy works very hard and has a wonderful analytical mind in the science of disease that many others don't have," said colleague Dr. Rand Allingham who has worked with Pericak-Vance for ten years on glaucoma, one of the world's leading causes of blindness.
It is no wonder that with over 300 peer-reviewed papers, Pericak-Vance is also Chief of Medical Genetics at Duke University Medical Center. In 1997 Newsweek Magazine named her one of the top 100 people to watch in the next millennium.
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