Over the past five years, an interdisciplinary team of researchers led by Andrew Feinberg, M.D., at John Hopkins University's Center for Epigenetics of Common Human Disease, has developed the novel statistical and analytical tools necessary to identify epigenetic modifications across the entire human genome. Epigenetic modifications, or marks, involve the addition of certain molecules, such as methyl groups, to the backbone of the DNA molecule. This action may turn genes on and off, thereby spurring or blocking the production of proteins.
The Johns Hopkins team has already used the new tools to identify epigenetic marks associated with certain types of cancer, depression and autism. Now, Feinberg and his colleagues will work on refining their approach so that it can be used efficiently and cost effectively in larger studies. The team specifically hopes to apply their tools to studies focusing on bipolar disorder, aging and autism. The researchers also will explore how various other factors, such as a person's genetic makeup, lifestyle choices and environmental exposures, interact with epigenetic factors to cause disease.
At the USC center, established in 2003, a team led by Simon Tavar-, Ph.D., will continue its work to improve the computational and statistical tools needed to understand genetic variation and its relationship to human disease. Recently, scientists have used genome-wide association studies to identify hundreds of regions of the genome that contain variants that contribute to the risk of common health conditions, such as cardiovascular disease and Type 2 diabetes.
Follow-up studies are needed to pinpoint exactly which genetic variants cause the increased risk, and to learn more about the function of these genetic variants. To help facilitate such work , the research team will now focus on how data from genome-wide association studies translate into observable traits, such as weight or blood pressure. Using fruit flies and other model organisms, the researchers plan to develop a framework for a map that would tie together genetic variants with their corresponding observable traits.
Besides carrying out their research missions, Centers of Excellence in Genomic Science serve as a focal point for providing education and training about genomic research to under-represented minorities. Participants range from college undergraduates to post-doctoral fellows.
Source: NIH/National Human Genome Research Institute