Genetics and Genomics

Unlocking the power of genetics to improve diagnosis of rare illnesses in children and rare cancers, and to create tailored treatments for common diseases.

Making a precise genetic diagnosis provides an opportunity for precision treatment, helping prevent conditions from progressing or even manifesting. We know from patients and families that this can be life-transforming. Many patients experience a long and complicated process to secure a diagnosis, adding to personal distress and significantly increasing the costs to the NHS.

In addition to the clinical need in rare disease, the next 5 years will represent a major opportunity to bring genetic and genomic discoveries in common disease into clinical practice. We are building on strong public interest in genetics to engage with patients and the public to help us shape and steer our research. By working in partnership to discover new genetic causes of rare and common disease our discoveries are helping to make a real difference to patient’s lives and, through our work with industry, to identify new therapies.

Our NIHR Exeter Biomedical Research Centre is helping us to work in partnership to discover new genetic causes of rare and common disease. These discoveries will make a real difference to patient’s lives and, in partnership with industry, help us to identify new therapies.

Explore the science

Watch this video to see the arrival of the Illumina NovaSeq X Plus, a cutting-edge genetic sequencer which can look at almost all of an individual’s genetic information in a single test within 24 hours. The sequencer is based in the Exeter Genomics Laboratory, a partnership between the University of Exeter, the Royal Devon University Healthcare NHS Foundation Trust, the Exeter NIHR Biomedical Research Centre (BRC), and the NHS South West Genomic Laboratory Hub.

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