The work will add 100 or more high-resolution reference epigenome maps for the International Human Epigenome Consortium, putting towards its 2020 target of 1000 reference epigenomes.
The epigenome includes DNA methylation, nucleosome occupancy, histone deacetylation and other histone modifications, and corresponding coding and non-coding RNA. Most of these changes occur in early development, but cells collect further changes throughout their life, some of which can lead to cancer. This means that the epigenome varies from individual to individual, and even from cell to cell, and studying the epigenome could help clarify the links between genes, environment and health or disease.
Initially, the 41 universities, research institutes and industry entrepreneurs, that make up BLUEPRINT will look at the epigenome of 60 different cell types from healthy blood, and 60 blood cancer cell types. Samples will come from the Cambridge BioResource, a panel of volunteers, as well as the International Cancer Genome Consortium and the British Diabetic Twin Study.
The teams will sequence the genome, as well as analyse the pattern of distribution of nine epigenetic markers, with an aim to understand how genes are activated or suppressed. They will also produce low-resolution epigenomic maps from blood samples from 100 healthy people, with support from the Wellcome Trust Sanger Institute.
The focus on blood is partly for ease of access, as blood samples are easily available from biobanks, but also because blood includes cells of different ages and at different stages of development, so that mapping the epigenome may shed some light on how cells develop, and how the epigenome changes in response to the environment.
Launched on 1 October 2011 with a two day meeting at the Royal Netherlands Academy of Arts and Sciences in Amsterdam, BLUEPRINT will be the largest ever project from the EC's health division, with an overall budget of around €40 million. It will run for four and half years and will be led by Professor Henk Stunnenberg of the Nijmegen Centre for Molecular Life Sciences in the Netherlands.