If epimutations can happen, the same effect should turn up in other genes. Martin’s colleague Catherine Suter of the Victor Chang Cardiac Research Institute in Sydney is studying whether melanoma patients have epimutations in genes associated with the cancer. It is also conceivable that epimutations could play a role in some cases of autism, Beaudet says.
Researchers agree they are just scratching the surface of understanding the role of epigenetics in health and disease. The NIH Roadmap Project should help by allowing them to compare models of disease with reference samples. In effect, “we’re trying to figure out how we work,” says epigenetics researcher Randy Jirtle of Duke University. “It’s an amazingly huge project, and it’ll never go away.”