Exploring the contribution of complex genomic variation to fibrosis risk

Scar-like tissue can form in the lungs, liver, skin, and bile ducts when the body’s repair processes go wrong, and a new project will search for the hidden genetic variants that drive this damage across multiple organs at once. Fibrosis—the buildup of stiff, non-functional tissue—underlies many chronic diseases, from pulmonary fibrosis to liver cirrhosis. Standard genetic studies have largely missed the structural variants (large DNA rearrangements) that may explain why some people develop fibrosis in several organs while others do not. This project fills that gap by analysing data from UK Biobank and All of Us, using a method that groups fibrotic diseases by organ system rather than studying each disease separately. This boosts statistical power for rare conditions. If successful, the work could reveal new drug targets and identify existing medicines that might be repurposed for fibrosis. It may also explain the “missing heritability” of fibrotic diseases—why standard genetic tests often underestimate inherited risk compared to family studies. The research is fundamental science, but deeper understanding of how structural variants contribute to fibrosis could eventually lead to better diagnostic tools and treatments for patients with multi-organ scarring.