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One of the great mysteries in biology is how the many different cell types that make up our bodies are derived from a single cell and from one DNA sequence, or genome.

46 gene sequencing test for cancer patients on the NHS

We 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 factors that read, write and erase the epigenetic blueprint 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.

A collection of 41 coordinated papers now published by scientists from across the International Human Epigenome Consortium (IHEC) sheds light on these processes, taking global research in the field of epigenomics a major step forward. These include new findings from Prof David Roberts in NDCLS.

Prof David Roberts from National Health Service Blood and Transplant collaborated with researchers at the University of Cambridge and the Sanger Institute to define over 2,700 novel genetic variants associated with the number and type of red blood cells, white blood cells and platelets. They conducted a genome-wide association study examining 36 blood cell characteristics and 30,000,000 genetic variants in over 150,000 people. They found just over 2,700 associated variants, including 130 rare and 230 low frequency variants that are associated with the number and type of the different blood cells. The variants suggest novel causal pathways of blood cell development and defining how these variants determine differences in blood cell type will help understand the processes of blood cell formation.

Prof David Roberts said, “This study has increased the number of genetic variants associated with blood cell types 10-fold and shown that genetic characteristics associated with the eosinophil white blood cells are associated with rheumatoid arthritis. This work opens up new avenues to look for treatments for blood cell diseases, auto-immune disease and arthritis”.

The research was published on 17 November 2016 in Cell.