Research affiliated with several organizations, including the BC Cancer Agency and Simon Fraser University, is featured in the journal Nature as part of a special issue highlighting 20 papers that are the outcome of a 7-year project mapping the epigenome. The project, called the National Institutes of Health Roadmap Epigenomics Program, provides a core set of data, methodology, and infrastructure for studying the role of the epigenome in human health and disease.

In particular, the paper “Integrative Analysis of 111 Reference Human Epigenomes” integrates all 111 epigenomes into a single comparative analysis. New technology allowed the research team to produce 111 highly detailed maps on how the epigenome varies and operates in different settings.

Epigenomes are chemical modifications of DNA and proteins that control the structure and activity of the genome, causing the genome to either stay healthy or develop diseases, such as cancer, because they produce the code for cellular properties that distinguish one cell type from another. A better understanding of the epigenome may assist in the design of new treatments.

The Roadmap Epigenomics Program was the first large-scale epi-genome mapping initiative in the world, and has inspired similar mapping efforts united by the International Human Epigenome Consortium, which aims to coordinate the production of at least 1000 human epigenome maps. The reference maps will help researchers decipher the biochemical activities of each DNA segment in the context of normal cell and tissue types.

The next step will be to map the epigenetic profiles of individuals to understand more about how they vary from person to person and to establish causes between any of the epigenomic marks and disease.

Research papers and associated materials describing the findings of the Roadmap Epigenomics Program are available at www.nature.com/collections/vbqgtr [8]. For more information about the program, visit www.roadmapepigenomics.org [9].