Approved Research

Characterization of somatic variation and its association with disease states in the UK Biobank

Lay summary

While our genetic code is handed down to us before birth, our personal genome is dynamic and changes as we age.  As our genes change over time, this creates distinct cell populations in our body - a process called somatic mosaicism.  These cell mosaics bring distinct disease risks and define a new avenue of genetic susceptibility to human disease.  We seek to leverage UK Biobank data to study how the genetic code that people are born with, combined with somatic mosaicism, leads to the development of age-related diseases.  We aim to identify mechanisms that we can target therapeutically to prevent and treat disease.  Our goal is to develop and apply these insights to improve health outcomes, including for residents of the United Kingdom.

These findings will lead to new diagnostic and therapeutic strategies to identify and mitigate risk for age-related diseases. The potential impact of this research on public health is very broad. New risk surveillance approaches and new treatments may improve outcomes across several different disease areas, including heart disease and cancers, which are leading causes of death and key drivers of healthcare costs.  It is anticipated that the results of these analyses will be published and made broadly available to the community over the next 3 years.