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The epigenome is the masterplan or blueprint of how to use genetic information to generate the thousands of cell types with different functions such as the liver or skin. It is like a panel of thousands of switches that turn genetic information on or off and is influenced by factors such as age and diet.
BLUEPRINT has exceeded its project goal, having generated more than 140 full epigenome maps. Together, these provide important insight into health and disease, and provide a valuable reference to investigate blood-based diseases, in particular cancer and immune diseases. “The complete profile uncovers information on the present state of the cell, an imprint of its past and how responsively it will respond to future environmental signals,” explains BLUEPRINT coordinator Hendrik (Henk) Stunnenberg from Radboud University, Nijmegen, the Netherlands.
Mapping the way to profiling
Key to BLUEPRINT’s achievements is the development of state-of-the-art methods to map epigenomes; the researchers also developed a process to analyse each cell-type individually as not all cells have the same epigenome.
Previous limits to profiling – low resolving power and requirement of large numbers of cells – were overcome by developing new assays and new layers of information on cell destiny, particularly in relation to cancer. Based on new technology, Cambridge Epigenetix, a bioscience company providing epigenetic tools, was established with $ 21 million funding led by Google Ventures.
Immunity to disease relies on blood cells and the project team has uncovered the role of epigenetics in the memory of innate immune cells – those you have from birth. The new concept has broad implications for immune diseases such as sepsis and rheumatoid arthritis.
The importance of the BLUEPRINT project is reflected in the publication of more than 270 papers, 80 in 'high-impact' journals including Nature, Science and Cell.
“BLUEPRINT has produced more new science and more understanding of blood cell disease than we could have imagined at the outset,” says Stunnenberg. “We have forged an alliance of researchers and innovative companies from around Europe and, working closely with international partners, we already see results that, in time, will improve the lives of patients. I’ve been honoured to coordinate such a diligent, creative and effective group, which has delivered beyond all expectation.”