£28.5m in funding for Human Functional Genomics Initiative

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 coordination and integration in functional genomics both as part of the initiative and alongside the wider national and international functional genomics community.

The £4.6 million Director’s award includes a fund for data coordination and networking, as well as collaboration across the interdisciplinary research clusters and external partners working in emerging areas of functional genomics research

£7 million from MRC will help establish a new functional genomics screening laboratory at the Milner Therapeutics Institute (MTI) in collaboration with AstraZeneca and the University of Cambridge.

£16.9 million from MRC and BBSRC will support four research clusters in functional genomics.

Professor Mill said: “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 wellbeing.”

The functional genomics screening laboratory is overseen by MTI’s Head of Research Dr Nicola McCarthy and will enable collaboration with researchers by facilitating arrayed CRISPR genetic screening. Its initial focus will be on studying non-cancerous diseases such as those affecting the immune, cardiovascular, neuronal and respiratory systems. Screening campaigns will be performed as a collaboration, with MTI scientists providing expertise and technical support, as well as carrying out the screens.

MRC support will enable the laboratory’s launch and help toward screening costs to researchers from across the UK, helping scientists to develop much-needed new diagnostics and treatments for patients.

Four research clusters will focus on technology development and research into genomic variation in a range of disease areas.

• The Edinburgh molecular mechanisms cluster will ask NHS patients to donate discarded tissue following surgical procedures, for deep characterisation using genetics and artificial intelligence to explain the molecular mechanisms of a broad range of diseases.
• Human functional genomics of post-translationally modifying clinical coding variants: FGx-PTMv. This team will define the biological consequence of genetic variants associated with rare diseases, discovered in the Genomics England 100,000 genomes project, which alter amino acids and protein function.
• Harnessing the interplay of genetics, cells and matrix to deliver insights into musculoskeletal health and new therapies in musculoskeletal disease
• Functional genomics of human brain development cluster will accelerate our understanding of gene variation which may lead to neurodevelopmental disorders, such as epilepsy, autism and intellectual disability.

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.”

A dedicated UK Functional Genomics Initiative website will be launching soon, but in the meantime interested parties are invited to register details to sign up to the mailing list.