DECODING


UVA Center Believes Public Health Genomic Research is the Key


What if obesity, a common risk factor for heart disease, diabetes, hypertension and other serious illnesses, involves a complex interaction of genetic factors that, in combination with various environmental factors, causes some people to develop unhealthy deposits of fat cells in their bodies? Why are African Americans at nearly twice the risk of developing type 2 diabetes compared with Americans of European ancestry? These are among the many puzzles that the University of Virginia’s Center for Public Health Genomics is trying to solve related to a number of health issues affecting the population.


Created in January 2007, the Center brings together researchers, clinicians, statisticians and bioinformatics experts from across the University to probe the human genome with the ultimate goal of deciphering the specific effects our DNA has on health and disease. While the field of genetics attempts to identify single-gene causes of disorders such as cystic fibrosis and Huntington’s disease, genomics works more broadly. Genome- wide research delves through our entire DNA looking for patterns among population groups that might be significant in a particular disease condition. Researchers believe that detecting these patterns will provide new clues for understanding disease pathways and will lead to new predictions of risk, novel treatments and new preventative measures.


Because of this wide-ranging—and costly—approach, the Center’s nearly 40 researchers focus their efforts on conditions that widely affect public health such as diabetes, stroke, cancer and cardiovascular disease.


“Genomics has become a major part of medicine,” says epidemiologist Stephen Rich, PhD, the Center’s director. “We’re looking not just at gene sequences but also at structural variations and how these various genetic polymorphisms specifically interact with risk factors in the environment.”


the Riddle of Disease


How do stressors change our genes? The advantage of genomic research is that it looks at health risks from a much wider perspective. When multiple genes are associated with a particular disease, each gene may contribute only a small part to the effect of the disease. Added to the complicated role each gene plays in a specific disease state are the multiple influences of outside factors such as diet, stress, medications, pollution or other environmental pressures.


Patrick Concannon, PhD, is a molecular geneticist at the Center. He is interested in how a patient’s genetic background interacts with certain treatments and medications. Concannon’s research into breast cancer attempts to predict which patients are at a higher risk for side effects from radiation therapy. So, a woman identified as having a low risk for side effects could then be treated with higher dosages making radiation therapy more effective. Those with a greater risk could be spared the discomfort of the side effects and steered toward other therapies.


“If we take a broader view and look at the pattern of genes that are associated with risk, we may be able to understand how different treatments work and which ones might be more effective for which people. It’s moving in the direction of personalized medicine,” Concannon says.


Michele Sale, PhD, also a molecular geneticist working with the Center, is conducting a genome-wide association study to identify parts of the genome that contribute to the risk of type 2 diabetes in African Americans.


“African Americans are at almost twice the risk of developing type 2 diabetes compared with Americans of European ancestry, and that’s not all explained by obesity, lifestyle and socioeconomic factors. So the assumption is that we will find some new genes that are associated with diabetes risk in that population,” Sale says.


While African American populations have not been as thoroughly studied, researchers looking at Europeans have identified approximately 20 genes that are most likely involved in type 2 diabetes risk. Sale says the strongest


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