Established around the hypothesis that epigenetics plays a critical role in human health, the NIH Roadmap Epigenomics Mapping Consortium is creating and cataloging reference epigenomes from a variety of normal human cells and tissues that investigators from the larger scientific community can use for their own comparisons. The global analysis of epigenetic changes across the entire genome, or epigenomics, is a key focal point of the mapping activity. This has generated huge amounts of data for comparison and integration within a broad array of future studies.
The consortium leverages next-generation sequencing technologies to map DNA methylation, histone modifications, chromatin accessibility, and small RNA transcripts in human embryonic stem cells, as well as primary ex vivo tissues selected to represent the normal counterparts of tissues and organ systems frequently involved in human disease.
The consortium is part of the Roadmap Epigenomics Program, an NIH Common Fund effort exploring an emerging frontier of science, which involves the study of changes in the regulation of gene activity and expression that are not dependent on gene sequence. NIEHS leads this program, along with the National Institute on Drug Abuse. The data arising from the program will be particularly useful for environmental health scientists because epigenetic misregulation resulting from environmental exposures is increasingly thought to be an important contributor to disease.