Medical and Regulatory Genomics

Every person carries millions of tiny differences in their DNA, but scientists cannot yet tell which of those differences actually matter for health or disease. This research group studies the fundamental biology of gene regulation—how and why genes are turned on and off in different cells at different times. They use computational methods to analyse datasets that measure the activity of thousands of genes at once. The problem is that human genomes vary at millions of DNA sites between individuals, and most of those variants have unknown effects. Without understanding which variants disrupt normal gene regulation, doctors cannot predict whether a particular DNA change raises a person's risk of cancer, a developmental disorder, or other diseases where gene regulation goes wrong. The group aims to build predictive models that forecast the effects of genetic variants in health and disease. If successful, this work could improve how clinicians interpret individual genomes, making genetic testing more informative for patients. This is primarily fundamental science—it advances understanding of how genomes work, rather than delivering an immediate medical tool. But similar fundamental research into gene regulation has already transformed how we understand cancer and embryonic development, and deeper knowledge here could eventually underpin more precise diagnostics and personalised medicine.