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The epigenetic basis of common human disease

Wednesday, September 3, 2014


Andrew P. Feinberg, M.D., M.P.H.
Gilman Scholar and Professor of Medicine
Johns Hopkins University School of Medicine

Dr. Feinberg made the first discoveries of altered DNA methylation in human cancer and he proved the epigenetic hypothesis of cancer through his work on Beckwith-Wiedemann syndrome (a genetic disorder characterized by overgrowth, tumor predisposition, and congenital malformations). He also identified the first common variant for cancer risk in colorectal cancer. His discovery of epigenetically altered progenitor cells has led to a paradigm shift in our understanding of carcinogenesis. Most recently, he pioneered the genome-scale epigenetics (epigenomics), leading the first whole-genome bisulfite sequencing analysis of human cancer. His protean interests include developing the field of epigenetic epidemiology, first focusing on autoimmune disease, and discovering the first example of epigenetic mediation of genetic variants in disease.


Although epigenetic changes in the cancer genome have been known for three decades, the role of epigenetics in common human disease and its relationship to genetic variation has only recently begun to be explored. The Feinberg lab has been developing whole-genome approaches to the epigenetic analysis of human disease and contributing to a new field of epigenetic epidemiology that integrates genetic, epigenetic, and environmental factors. One of the most exciting developments in this recent work is the idea that epigenetic plasticity under genetic control may confer a survival advantage in evolution, and may also be important in normal tissue differentiation and response to the environment. Dr. Feinberg has suggested a unifying model of cancer in which epigenetic dysregulation allows rapid selection for tumor-cell survival at the expense of the host.

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