Enhancer function and dysfunction: molecular mechanisms, genome context, and disease

Our genes are controlled by genetic switches embedded in the 95% of our genome that does not contain genes. Mutations in these switches can cause severe disease, but scientists do not understand how. This programme investigates how the three-dimensional folding of the genome underpins how these switches work. It aims to improve understanding of how genetic changes in these elements contribute to disease and disease risk. This is fundamental science: it addresses a basic gap in knowledge about gene regulation. A deeper understanding of how these switches operate and fail could, in the long term, help explain why certain genetic mutations lead to illness, potentially guiding future research into diagnostics or treatments for conditions caused by non-coding genome errors.