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The Medical Research Council (MRC), in collaboration with the Biotechnology and Biological Sciences Research Council (BBSRC), has provided £28.5 million in funding to establish the Human Functional Genomics Initiative programme.

It aims to advance our understanding of how genomic variation influences human physiology and how it changes over time and in disease.

Who is leading the new 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.

How does UKRI funding support the initiative?

The £4.6 million Director’s award includes a fund for:

  • data coordination and networking
  • 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.

Facilitate innovation and collaboration

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 well-being.

Functional genomics screening laboratory

The laboratory is overseen by MTI’s Head of Research Dr Nicola McCarthy.

The laboratory:

  • will enable collaboration with researchers by facilitating arrayed CRISPR genetic screening
  • will focus initially on studying non-cancerous diseases such as those affecting the immune, cardiovascular, neuronal and respiratory systems
  • has the potential to expand into other areas

Screening campaigns will be performed as a collaboration, with MTI scientists providing expertise and technical support, as well as carrying out the screens.

Our 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.

Research clusters

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

The Edinburgh molecular mechanisms cluster

At The University of Edinburgh, Professor Kenneth Baillie will build an open and collaborative programme.

They 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

From Imperial College, Dr Matthew Child will lead a multidisciplinary team with expertise in:

  • computational genomics
  • mathematics
  • biomedical informatics
  • chemoproteomics
  • cell biology

They will 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

Professor Dominic Furniss, University of Oxford, and his team will use a variety of functional genomics techniques to:

  • boost our understanding of musculoskeletal health and disease
  • generate therapeutic targets for future studies
  • provide tools and training for the wider community

Functional genomics of human brain development cluster

Professor Oscar Marin at Kings College London, together with collaborators, will use brain organoid models that closely mimic human brain tissue.

This will accelerate our understanding of gene variation which may lead to neurodevelopmental disorders, such as epilepsy, autism and intellectual disability.

Exciting time for UK functional genomics research

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.

Further information

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

You can also contact the Functional Genomics Coordination Centre directly at fgx@exeter.ac.uk

Human Functional Genomics Initiative research cluster teams

The Edinburgh molecular mechanisms cluster

Team includes:

  • Professor Kenneth Baillie
  • Dr Paul Martin Brennan
  • Dr Simon Biddie
  • Professor Kev Dhaliwal
  • Professor Sara Brown
  • Dr Zoeb Jiwaji
  • Professor Andrew McIntosh
  • Dr Konrad Rawlik
  • Dr Sara Clohisey
  • Dr Erola Pairo Castineira
  • Dr Andrew Bretherick
  • Dr Jonathan Millar
  • Dr Eleanor Earp

Human functional genomics of post-translationally modifying clinical coding variants: FGx-PTMv

Team includes:

  • Dr Matthew Child
  • Dr Alessia David
  • Professor Edward Tate
  • Professor Mauricio Barahona
  • Professor Paul Freemont
  • Professor Sophia Yaliraki
  • Professor Damian Smedley
  • Dr Maria J. Martin
  • Dr Marko Storch
  • Dr James Stephenson

Harnessing the interplay of genetics, cells, and matrix, to deliver insights into musculoskeletal health and new therapies in musculoskeletal disease

Team includes:

  • Professor Dominic Furniss
  • Professor Adam Cribbs
  • Dr Sarah Snelling
  • Professor Pierre-Alexis Mouthuy
  • Mr Akira Wiberg
  • Professor Stephanie Dakin
  • Professor Kim Midwood
  • Dr Kazem Rahimi
  • Professor David Sims
  • Professor Tonia Vincent
  • Professor Udo Oppermann
  • Dr Gisela Orozco

Functional genomics of human brain development cluster

Team includes:

  • Professor Oscar Marin
  • Dr Anthony Vernon
  • Professor Beatriz Rico
  • Professor Benedikt Berninger
  • Professor Corinne Houart
  • Professor Deepak Srivastava
  • Dr Fursham Hamid
  • Dr Ivo Lieberam
  • Professor Juan Burrone
  • Dr Katherine Long
  • Dr Laura Andreae
  • Dr Laura Pellegrini
  • Professor Robert Hindges
  • Professor Rosalyn Moran
  • Dr Graham Cocks
  • Dr Sebastian Gerety
  • Dr Claudia Clopath
  • Dr Matthew Hurles

Top image:  Credit: sergunt, iStock, Getty Images Plus via Getty Images

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