Origins and impacts of regulatory mutations

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We study how alterations to DNA called mutations cause birth defects and cancers, based upon new computational analyses of large DNA sequencing datasets. Overall, the challenge is to find the small minority of mutations among many that affect gene functions and cause disease.Mutations in sperm, eggs or the early embryo can cause a huge range of rare genetic disorders in children, but the mutations underlying most cases are unknown. We aim to understand the processes that lead to these mutations as parents age, to find the few mutations that really matter, and help clinicians to diagnose cases.A tumour can accumulate many thousands of mutations in complex overlapping patterns, and we work to understand how combinations of mutations cooperate to drive cancer growth. This helps to match cancer patients to the most effective treatments, and may suggest new treatments in under-studied tumour types.Our work links diverse researchers, NHS clinical staff and industry in multidisciplinary research that generates important new data as well as extracting new insights from existing data. Our projects are designed to reveal fundamental new knowledge about human disease, but also to open new possibilities in current medical practice.