A world-leading genomics expert at the University of Exeter Medical School has been appointed as director of a new UK-wide initiative dedicated to characterising the functional consequences of disease-associated genetic variation.
The field of functional genomics aims to explore how genes influence different biological processes in the body with the goal of understanding the mechanisms involved in disease and ultimately develop new treatments.
The Medical Research Council (MRC), in collaboration with the Biotechnology and Biological Sciences Research Council (BBSRC), has awarded £28.5million to establish the Human Functional Genomics Initiative, a programme that aims to advance our understanding of how genomic variation influences human physiology and how it changes over time and in disease.
Professor Jonathan Mill, from the University of Exeter Medical School will lead the initiative as its newly appointed Director. He will also contribute to shaping and supporting data co-ordination and integration in functional genomics both as part of the initiative and alongside the wider national and international functional genomics community.
Professor Mill said: "It's a very exciting time for functional genomics research. The development of novel experimental methods including gene-editing approaches, disease-relevant cell models and whole genome sequencing, alongside advances in data science and artificial intelligence, mean that now is the perfect time to launch an initiative aimed at systematically characterising the functional consequences of disease-associated genetic variation.
"This initiative will catalyse research into the mechanistic underpinnings of health and disease by identifying causal variants and modelling their impact in disease-relevant cell-types across key stages of development. It will facilitate innovation and collaboration among multidisciplinary teams, and accelerate the translation of functional genomic research into tangible benefits for health and well-being. "
As part of the initiative a new functional genomics screening laboratory will be set up at the Milner Therapeutics Institute, in collaboration with AstraZeneca and the University of Cambridge. It will enable collaboration with researchers by facilitating genetic screening and will focus initially on studying non-cancerous diseases such as those affecting the immune, cardiovascular, neuronal and respiratory systems, with the potential to expand into other areas.
Four research clusters based across the country will focus on technology development and research into genomic variation in a range of disease areas. Cluster leads will be based at the University of Edinburgh, Imperial College, the University of Oxford and King's College London.
MRC Executive Chair, Professor Patrick Chinnery, said: "This is an exciting time for UK functional genomics research. With MRC's support the convergence of recent advances in gene-editing technology, artificial intelligence, and other technologies will allow us to answer research questions in ways that would have previously been impossible.
"The Human Functional Genomics Initiative is key to advancing the UKRI's strategic priority to securing better health, ageing, and wellbeing".
Professor Lisa Roberts, President and Vice-Chancellor at the University of Exeter, said: "Over the past three decades, the University of Exeter has been leading efforts to characterise the genetic basis of human disease. This new initiative will enable us to explore the functional consequences of these genetic variants, using new technologies to understand mechanisms of disease and develop new treatments.
"I'm delighted to see Professor Mill leading this national initiative, which will vastly accelerate the use of functional genomics to benefit patient treatment and care."
