Epigenomics is an emerging frontier of science focusing on DNA modifications and modifications of proteins associated with DNA. These modifications occur “on top of” the genome and can be associated with changes in gene activity without alteration of the underlying DNA sequence, or “genetic blueprint.” The Common Fund-supported NIH Roadmap Epigenomics Program is focused on characterizing the occurrence and potential functions of these modifications in normal development and in a wide variety of diseases.
There are many types of epigenomic modifications and their occurrence across the human genome has not been well-characterized. Therefore, one component of the program is mapping these modifications across the entire genome of many different human cell types. These include stem cells and a range of primary cell types and tissues (e.g. cells and tissues from blood, lung, heart, gastrointestinal tract, and brain). These epigenomic maps are being made available to the entire scientific community for use in their own research projects through the National Center for Biotechnology Information at the NIH (http://www.ncbi.nlm.nih.gov/epigenomics). More can be learned about the Epigenomics mapping effort, including the relevant protocols used to obtain data and the numerous publications generated thus far, through the Common Fund Roadmap Epigenomics Program Website .
The generation of these epigenomic maps for different cellular states is beginning to allow scientists to: (1) identify which epigenomic modifications are the most informative to map; (2) predict the functions of particular regions of the genome; and (3) provide a glimpse of how the epigenomes of distinct cell and tissue types differ. These data sets can also be used to help identify genetic loci and epigenomic changes associated with different diseases.
The Epigenomics Program also supports individual research projects examining the role of epigenetic regulation in a wide variety of diseases and conditions (see the Funded Research for specific research projects under initiative RFA-RM-08-017). In addition, the program supports the discovery of new epigenetic modifications that may play a role in human health, as well as new technologies that will permit enhanced epigenetic analyses, including the imaging of epigenetic changes in vivo.
The NIH Roadmap Epigenomics Program is a member of the International Human Epigenome Consortium (IHEC), a growing international effort to coordinate worldwide epigenome mapping and to disseminate experimental standards for epigenome characterization. Read more about IHEC at: http://ihec-epigenomes.org/index.html.