Molecular datasets & disease

We are using human population-based research and targeted genetic changes in animal models to increase our understanding of how a person’s genetic makeup can predispose them to disease or affect how they will respond to treatment. The biomedical and health research sectors now operate in the ‘big data’ era where new opportunities exist to extract insights from large and complex datasets. Taking these opportunities will help us to understand the relationship between genetics and other factors in health and disease and determine important molecular pathways for the targeting of therapeutics.


To use genetics, imaging and biological indicators to understand predispositions to disease, and target treatments to disease subtypes.


We are using rich cohort, tissue and animal model resources to reveal insights into the biological causes of disease, and how they interact with exposures to the physical and social environment.

  • The MRC has invested in high-throughput ‘omics’ technologies (such as genomics, proteomics and metabolomics) and imaging approaches to enrich existing cohort and tissue resources.
  • We are supporting the genotyping of all 500,000 participants in the UK Biobank cohort. The Department of Health’s 100k Genome Project, which will sequence the genomes of 100,000 NHS patients in England will also provide a valuable resource for research to understand diseases.
  • We have made significant investments in medical bioinformatics and health informatics to enhance the UK's capability to tackle the challenges of the big data era.
  • Animal models including mouse, rat, fish and fly continue to reveal insights into human disease. Working with international partners we have invested in the phenotyping of mouse mutants to provide a resource for the scientific community.


We aim to better understand the complex connections between genomics and other biological factors, which may be influenced by people’s environment and lifestyle, and use large collections of biological samples and computational methods to reveal new insights into the causes and mechanisms of disease.

  • We aim to improve understanding of the role of genes and other biological factors in the predisposition to, and progression of, disease, and how this knowledge can be exploited for the prevention of diseases.
  • We aim to better understand the interactions within and between complex biological systems so that we can understand the causal pathways of diseases and reveal those at which to target new treatments.


We will bring together new approaches for generating and analysing data on genetic and other biological indicators, and use new models to explore molecular pathways of diseases and new targets for therapeutics.

  • We will expand the use of new high-throughput technologies to study human cohorts, collections of human tissue and animal models so that we can deliver insights into the relationship between exposures for example of a physical, chemical, or social nature, biological factors and disease.
  • We will build on the UK’s strengths in epigenetics to better understand what triggers epigenetic changes and how they influence disease.
  • We will continue to invest in innovative analytical infrastructure and medical bioinformatics (including skills, methodologies and technologies) to improve the analysis and linking of large-scale genome and phenome information to patient and population data.
  • We will invest in innovative synthetic and chemical biology to create new tools to understand mechanisms of disease and offer opportunities to develop new families of treatments and vaccines.
  • We will invest in dynamic, quantitative computational modelling approaches and novel imaging technologies to improve our understanding of complex biological systems at the cellular, organ and whole-system levels.

Making an impact: UK academic contribution to next-generation sequencing technology

Chemical biology research at Oxford University funded by the MRC and the Engineering and Physical Sciences Research Council led to the establishment of the spin out company Oxford Nanopore Technologies (ONT).

Based on its transformative nanopore sequencing technology ONT has successfully raised more than £100m in funding to pursue the development of products in this area. Other leading companies in DNA sequencing, Illumina and Life Technologies, also use UK academic discoveries funded by research councils.

Illumina relies on ‘Sequencing by synthesis’ technology and Life Technologies, which was recently acquired by Thermo Fisher for nearly $14bn, relies on electrochemical detection of DNA.