Research Interests

The major focus of my research is in Autosomal Dominant Polycystic Kidney Disease (ADPKD). We have defined the critical molecular interactions necessary for the formation, trafficking and function of the polycystin-1/polycystin-2 protein complex and the major changes in cell function and signalling resulting from the disease phenotype. This information has been used to develop new therapeutic approaches using preclinical models and will ultimately be tested in man.

The clinical programme has focussed on improving the patient pathway for patients and families with ADPKD. We have established a widely used UKGTN-approved genetic testing service for PKD1 and PKD2 in collaboration with the Sheffield Genetic Diagnostic Service, a tertiary multidisciplinary PKD clinic based at the Sheffield Kidney Institute which cares for over 300 patients and have participated in several international clinical studies and trials as the UK lead investigator.