Somatic Genomics

Overview

The Somatic Genomics programme explores the causes and consequences of DNA changes that our genomes acquire over a lifetime (somatic mutations and epimutations) and how these impact human health and disease. Our researchers aim to answer fundamental scientific questions about how these somatic changes contribute to processes such as clonal evolution, ageing, cancer, and development. We use highly sensitive experimental methods and advanced computational tools to detect such events and to understand their contribution to human biology. In parallel, we investigate their biological consequences using innovative approaches, including high-throughput cellular models and gene-editing technologies.

Discovering how our past impacts our future

As our bodies age, we build up a lifetime’s worth of DNA changes (somatic mutations and epimutations) in the genomes of our cells. Some of these genetic alterations have no effect, but some impact how our cells function and increase the risk of developing diseases such as cancer, diabetes and neurological conditions.

The Somatic Genomics programme explores the genetic effects of ageing and disease, and the processes behind cancer development, by discovering how our genomes acquire and retain DNA changes due to:

• external factors such as UV light, smoking, diet and other factors in our environment.
• internal factors such as the failure of cellular and genomic processes designed to protect the genome from DNA damage.

Through these studies we aim to understand which somatic mutations and epimutations drive the development of disease to lay the foundations for effective personalised medicine by accelerating diagnoses, suggesting preventative approaches, and by enhancing drug development.

Deploying our expertise in cancer and beyond to understand fundamental questions across medicine and biology

Cancer development, prevention and treatment is a key focus of the Somatic Genomics programme. Through our research we have developed a powerful toolkit of cutting-edge DNA sequencing, multi-omic, bioinformatic and cellular techniques to understand the genetic drivers of tumour formation and to reveal therapeutic targets for drug development.

We also apply our decades of experimental and bioinformatic expertise in somatic mutations to deliver vital insights into their roles across biology and human health more broadly. By discovering how somatic mutations and epimutations lay the genomic foundations for the development of long-term health conditions, we are pioneering new fields of exploration across a range of diseases and providing insights into how these conditions may be treated.

We work closely with the Human Genetics and Cellular Genomics programmes.