Department of Haematology researchers have played a leading role in several recent studies looking at how variation in and potentially heritable changes to our DNA, known as epigenetic modifications, affect blood and immune cells, and how this can lead to disease.
The studies are part of BLUEPRINT, a large-scale research project bringing together 42 leading European universities, research institutes and industry entrepreneurs, with close to €30 million of funding from the EU. BLUEPRINT scientists have released a collection of 26 publications, part of a package of 41 papers being published by the International Human Epigenome Consortium.
One of the great mysteries in biology is how the many different cell types that make up our bodies are derived from a single stem cell and how information encoded in different parts of our genome are made available to be used by different cell types. Scientists have learned a lot from studying the human genome, but have only partially unveiled the processes underlying cell determination. The identity of each cell type is largely defined by an instructive layer of molecular annotations on top of the genome – the epigenome – which acts as a blueprint unique to each cell type and developmental stage.
Unlike the genome, the epigenome changes as cells develop and in response to changes in the environment. Defects in the proteins that read, write and erase the epigenetic information are involved in many diseases. The comprehensive analysis of the epigenomes of healthy and abnormal cells will facilitate new ways to diagnose and treat various diseases, and ultimately lead to improved health outcomes.
“This huge release of research papers will help transform our understanding of blood-related and autoimmune diseases,” says Professor Willem Ouwehand from the Department of Haematology, one of the Principal Investigators of BLUEPRINT. “BLUEPRINT shows the power of collaboration among scientists across Europe in making a difference to our knowledge of how epigenetic changes impact on our health.”
Highlights of the papers include:
- a study led by Professor Nicole Soranzo from the Department of Haematology and Dr Adam Butterworth from the Department of Public Health and Primary Care identifying the effect of genetic variants in our DNA sequence on our blood cells;
- a study also led by Professor Soranzo analysed the contribution of genetic and epigenetic factors to different immune cell characteristics;
- the mapping the regions of the genome that interact with genes in 17 different blood cell types jointly led by Dr Mattia Frontini from the Department of Haematology;
- a reference map of how epigenetic changes to DNA can program haematopoietic stem cells – a particular type of ‘master cell’ – to develop into the different types of blood and immune cells produced by Dr Frontini in conjunction with researchers at the University of Vienna.