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New Method Pinpoints Genetic Sources of Disease

Dr. Yun Liu in the labYun Liu, Ph.D.

A new method developed by Johns Hopkins researchers has the potential to pinpoint genetic sources of diseases, including many cancers and metabolic disorders. Andrew Feinberg, M.D., M.P.H., the director of the Center for Epigenetics in the Institute for Basic Biomedical Sciences, and his team discovered how “tags” atop DNA could indicate which genes contribute to disease, a finding that could enable better disease prevention strategies and more effective targeted treatments.

Uncovering the genetic causes of disease has been difficult because seemingly inactive DNA can affect sections of DNA elsewhere. Until now, researchers have had no way of determining which pieces of DNA were affecting others, but Dr. Feinberg and his co-authors, including Yun Liu, Ph.D., and Dani Fallin, Ph.D., used a new gene-mapping technique to solve this mystery.

Their results suggest that inactive DNA may be acting on distant DNA by influencing epigenetic tags, small chemical add-ons that change the type or quantity of proteins produced, atop the DNA. “Epigenetic tags show how disease-causing genetic variants might affect distant genes that in turn contribute to the disease,” says Dr. Feinberg. “By showing the connections between genetic variants and epigenetic information, we're providing epidemiologists with a road map.”

Dr. Feinberg says he hopes that researchers will see these findings as a reason to add epigenetic analyses to ongoing genetic analyses of disease. His group’s next step, he says, will be to look for epigenetic tags associated with specific diseases, such as Crohn’s and cirrhosis, in which researchers have struggled to isolate the problematic part of the genetic code. “Researchers — ourselves included — can use this information to see if the implicated gene is turned on or off in patients compared to healthy people,” Dr. Feinberg says.

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