Dr. Margaret Pericak-Vance is running a little late. She bustles into her office in the Carl Building of Duke Hospital, motioning us to follow her, jokingly bemoaning the presence of a photographer and asking one of the office's student interns to get her some water. It is 90 degrees outside but the heat doesn't seem to slow Perciak-Vance down.
On the office floor sits a stand-up cardboard version of Mini-Me, Austin Powers' nefarious midget nemesis. Pictures of Pericak-Vance's family deck the walls, along with a collage featuring the cast of Law and Order and, handwritten onto a piece of computer paper: OMom is a Loser.' Figurines of wizards and dogs litter her desk.
But despite her warm demeanor and fun office decorations, Pericak-Vance's work is no child's play.
Director of the Center for Human Genetics, Pericak-Vance, also a James B. Duke Professor of Medicine and Chief of the Section of Medical Genetics, spends her time "dissecting the underlying causes of both single gene disorders and more complexÉ phenotypes," according to her center biography.
Although she administrates the entire center, her personal research focuses on Alzheimer's disease and autism--"the very old and the very young," she says. In 1997, Newsweek named her a member of the "Century Club: 100 People to Watch as We Move to the Next Millennium."
And earlier this academic year, Pericak-Vance was named the prestigious Louis D. Scientific Award laureate for her work in Alzheimer's. In 1993, according to Duke Magazine, the researcher and her team discovered the "first major genetic risk factor" for the disease.
"We put a very innovative approach into the Louis D. to combine genomic and genetic approaches to try to find a gene for Alzheimer's," says Pericak-Vance of the $700,000 grant, which went to working on identifying susceptibility genes for Alzheimer's.
In addition, Pericak-Vance and her team are trying to identify genes that may control the age of onset of Alzheimer's. "If you could delay onset of the disease until you were 120, you wouldn't care if you were [susceptible] because most people would die of something else in between anyway."
Pericak-Vance says she is good at multitasking. In addition to working on Alzeheimer's, she is trying to figure out what genes make children more susceptible to autism. She says the center has been successful in that endeavor, identifying three regions where autism genes may exist.
The center focuses on a whole slew of other illnesses as well, including Parkinson's disease (her husband, Dr. Jeffery Vance, is Director of the Morris K. Udall Parkinson Disease Research Center of Excellence at Duke).
As director of the genetics center, Pericak-Vance does less work directly with patients now than she did before she had to worry about being an administrator. Generally, patients from all over the country participate in center studies, sending teams of clinicians out to work with them.
While Pericak-Vance has less one-on-one time with patients now, she says the weight of the work can, at times, be draining. "It can be very tiring in terms of, you really want to give back a lot to the patients, and in that respect it takes a lot of energy. You don't want to just go in and take their blood and leave."
Pericak-Vance says the center issues huge newsletter updates to its patients twice a year. While she can't give out information about specific patients in the newsletters, she updates the patients on how the research is going.
"Just to take their blood and not to give them any feedback is, to me, unethical," she says.
There are other ethical issues Pericak-Vance has to confront as well. For example, in studying susceptibility genes, should a doctor reveal to a 20-year-old she may be susceptible to an illness when she is 65?
Pericak-Vance says different doctors have different approaches, though many agree that if there is indeed a cure for an illness, telling a patient about his or her susceptiblity is ethical.
Pericak-Vance, originally from Buffalo, New York, never thought she'd end up in North Carolina. After receiving her Ph.D in human genetics from the University of Indiana, Pericak-Vance was invited to do her post-doctoral work with Robert Elston, a noted professor of genetics.
"You don't just say no to Robert Elston and go to work somewhere else," she says.
After her husband decided to go to Duke's School of Medicine, Pericak-Vance went to work for her husband's old-boss, Dr. Allen Roses at Duke. She's been here ever since.
Pericak-Vance says Duke is a wonderful place to research medicine. Its location--close to a sizable patient population--is ideal and "unlike Boston, where Harvard has 20 different hospitals all over the place, at Duke you run into the people you work with all the time."
And unlike when Pericak-Vance first started, the "technology now has in such a short time exploded on the sceneÉ. When I first started, the only diseases you could really work on, really attack, were these very rare disorders."
Currently, Pericak-Vance is editing the first high school resource book on human genetics, and she says it has been an interesting process because "you never forget that we used to work on these very rare disorders--Huntington's disease, cystic fibrosis."
Unlike her current research, in which she uses computers and other technology to attack "diseases that are major public health threats," her previous work was more straightforward--much more simple in terms of how the disorders were passed on.
As the interview winds down, Pericak-Vance begins interrogating us about our own future plans. As for her, she plans to continue on with her Alzheimer's and autism research at Duke. She smiles broadly and escorts us out. Back to work.
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