NIH Epigenomics Roadmap Initiative. Homo sapiens

Epigenetics is an emerging frontier of science that involves the study of changes in the regulation of gene activity and expression that are not dependent on gene sequence. For purposes of this program, epigenetics refers to both heritable changes in gene activity and expression (in the progeny of cells or of individuals) and also stable, long-term alterations in the transcriptional potential of a cell that are not necessarily heritable. While epigenetics refers to the study of single genes or sets of genes, epigenomics refers to more global analyses of epigenetic changes across the entire genome. The overall hypothesis of the NIH Roadmap Epigenomics Program is that the origins of health and susceptibility to disease are, in part, the result of epigenetic regulation of the genetic blueprint. Specifically, epigenetic mechanisms that control stem cell differentiation and organogenesis contribute to the biological response to endogenous and exogenous forms of stimuli that result in disease. To accomplish this, the Roadmap Epigenomics Program proposes to: (1) create an international committee; (2) develop standardized platforms, procedures, and reagents for epigenomics research; (3) conduct demonstration projects to evaluate how epigenomes change; (4) develop new technologies for single cell epigenomic analysis and in vivo imaging of epigenetic activity; and (5) create a public data resource to accelerate the application of epigenomics approaches.