Rare Diseases and Genetics

Genetics and genomic informs the whole spectrum of human health and disease. Our research focuses on the uses of genetics and genomics in medicine today, encompassing clinical disorders, molecular mechanisms of disease and DNA technologies.

Within rare inherited disorders, we have particular interests in neurodevelopmental conditions, inherited eye diseases and ciliopathies. Our work on cancer genomics provides new insights into the molecular basis of disease and informs new approaches to detection and personalised medicine. Functional genomics encompasses the application of empirical and computational approaches to analysis, interpretation and disease modelling from the level of DNA to whole cells. Genetic approaches to treatment and prevention include genetic testing and pharmacogenomics, in partnership with Leeds NHS Teaching Hospitals.