MRC supports and funds genomics research and contributes to the wider resources and support of genomics available in the UK.
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
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:
- the Wellcome Sanger Institute
- the European Bioinformatics Institute (EMBL-EBI) at Hinxton, Cambridge
- National Institute for Health and Care Research (NIHR) BioResource
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.