Area of investment and support

Area of investment and support: Genomics

MRC supports and funds genomics research and contributes to the wider resources and support of genomics available in the UK.

Duration:
This is a long-standing area of investment
Partners involved:
Medical Research Council (MRC)

The scope and what we're doing

Historically, MRC-led activity has played a foundational role in supporting science studying the human genome, the complete set of a person’s DNA (genetic code). This has included important breakthroughs such as:

  • research leading to a Nobel Prize in Medicine for the structure of DNA (1962)
  • helping drive the Human Genome Project to produce the first draft sequence of the human genome (2000)
  • developing high-throughput DNA sequencing (Oxford Nanopore Technologies, 2011)

Genetic research is uncovering differences (variants) in the genetic code across the population. A continued focus of genetic research is discovering how these variants influence molecular and cellular pathways and physiological function in individuals. This has led to breakthroughs in the understanding of how differences in the genetic code can promote human health or cause disease.

These breakthroughs have enabled new strategies for disease prevention and diagnosis such as:

  • genetic testing for rare diseases
  • identifying the genetic risk associated with modifiable conditions
  • the development of new therapies such as correcting DNA errors through gene therapy

UK genomics

MRC makes substantial contributions in support of biomedical and health research through strategic investments. This includes the MRC Human Genetics Unit, and a national portfolio of investigator-led projects, programmes and fellowships that both generate new knowledge and help train and develop the careers of scientists.

These investments are underpinned by an ethos of translating scientific discoveries into the clinic and public healthcare to prevent or tackle disease and improve human health. The discoveries are often accelerated by partnerships forged between academia and industry to bring together complementary skills and strengths.

MRC has long supported and benefitted from the UK’s exceptional range of assets in genomics. This includes those that MRC has directly supported such as:

Other key UK genomics assets include:

MRC continues to be centrally positioned in the UK genomics investment landscape. This allows MRC to play an important role in advocating for an internationally recognised, coordinated genomics research environment that delivers impactful and value-for-money research for the UK taxpayer.

Genomics technology, data and research resources

Technologies, data capabilities and population research resources are critical to underpinning genomics research. MRC’s strengths and achievements include breakthroughs in DNA sequencing technologies and substantial investments in data sciences (for example Health Data Research UK).

MRC also provides support for setting up and maintaining an extensive national portfolio of studies and cohorts (a group of people who have been included in a study by an event that is based on the definition decided by the researcher) that follow the health of large groups of people or patients over time.

MRC contributes to, and benefits from the rapid progression in data capabilities and new methodologies that enable precious national genomic data to be readily accessible and discoverable to the wider research community. These advances are helping to enable the development of the UK’s newest population research assets that promise to be globally leading, such as:

The future of genomics research

There are still many challenges across the breadth of human genomics research, which MRC continues to tackle, capitalising on improved knowledge and technologies that help to identify opportunities aligned to MRC priorities.

One challenge is creating novel approaches to link genomic variation to function. This is an exciting emerging area for health improvement. MRC is helping to bring this to fruition by supporting a major new ‘functional genomics’ initiative. This will enable researchers to exploit the latest in technologies to more comprehensively understand how genomic variants influence functional changes, improving our understanding of health and disease and potential therapies.

Other areas of opportunity include studying the complex interactions between human genomes and non-human genomes. This includes those of pathogens and infectious agents where this relationship is critical to determining person-to-person differences in our response to infection.

MRC recognises that for all communities and population groups to benefit from MRC-funded research, the researchers must embed a consideration of diversity in the design and conduct of research involving human participants, samples and data.

Efforts at the discovery research level include developing better human-relevant experimental models that reflect the genome diversity of the national and global populations. In addition it is important to increase the breadth of genomic data available of individuals from under-represented groups. These approaches supporting discovery research complement other national efforts.

Opportunities, support and resources available

Support available

Research boards

Our four research boards fund science that enhances our knowledge of the biology of health and disease and new approaches to treatment, including genomics research.

The choice of which board to submit to will depend on the nature of the work and the disease being investigated. Basic molecular and functional genetics, epigenetics, genomics should be directed to the Molecular and Cellular Medicine Board. Genetics and genomics research that focuses on specific organs or tissues and associated dysfunction or disease, other than haematology and cancer, are more likely to align with one of the other research boards. For more information on research board remits, see the following:

Training

Genetics and genomics research projects are eligible for all our training investments. More information about training grants is available, specifically for fellowships and studentships.

Resources

In 2023 MRC launched the Human Functional Genomics Initiative, which includes the Functional Genomics Screening Laboratory (FGSL) at the Milner Therapeutics Institute in Cambridge.

You can now apply to collaborate with FGSL on projects using complex human in vitro models for CRISPR screening to better understand model biology and enable target identification. There will also be future opportunities to engage and collaborate with the initiative as well as access and use the data arising from this work.

EMBL’s European Bioinformatics Institute (EMBL-EBI)

EMBL-EBI hosts a comprehensive range of freely available and up-to-date molecular data resources, developing databases, tools and software including a range of key genomics tools.

They also provide advanced bioinformatics training to scientists at all levels and facilitate knowledge exchange with the commercial sector.

UK Biobank

UK Biobank is a large-scale biomedical database and research resource, containing in-depth genetic and health information from half a million UK participants that can be accessed by researchers all over the world.

Genomics England

Genomics England works in collaboration with the NHS to provide the health data and advanced technology researchers need to make new medical discoveries and create more effective medicines for patients and their families.

Our future health

Our future health is an ambitious collaboration between the public, charity and private sectors to build the UK’s largest health research programme. It brings people together to develop new ways to prevent, detect and treat disease.

National Institute for Health and Care Research (NIHR) Bioresource

NIHR Bioresource collaborates with more than 100 NHS trusts, collecting and archiving samples for genetic analysis for both rare and common diseases and for COVID-19, together with a health survey and access to NHS records.

Wellcome Sanger

Wellcome Sanger is an open-access genome research centre that focuses on the development, application and implementation of genomics technologies. It specialises in handling research producing substantial data sets, providing expertise in the aggregation, analysis and interpretation of genomic data.

MRC Human Genetics Unit

Research at the MRC Human Genetics Unit combines the latest computational and experimental technologies to investigate how genomes work to control the function of molecules, cells and tissues in people and populations.

Who to contact

Ask a question about this area of investment

Molecular and Cellular Medicine team

Email: MCMB@mrc.ukri.org

Last updated: 20 August 2024

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