I conduct research into genetic kidney disease and run the genetic kidney disease clinical service for North London that provides care for patients and families with hereditary kidney problems, including Polycystic Kidney Disease, Alport Syndrome, complement disorders and unexplained familial kidney failure. Patients are frequently offered enrolment in clinical research studies, including those involving new treatments.

Using linkage mapping, next generation sequencing and other techniques I discovered (and identified the genetic defects responsible for) the diseases HIF2α erythrocytosis and pulmonary hypertension, which results from a defect in cellular oxygen sensing, and CFHR5 nephropathy, which results from a defect of complement alternative pathway regulation and which is endemic in people of Cypriot ancestry. I also study genetic factors important in other kidney diseases and, using genome wide association studies, have identified genes important in disorders including IgA nephropathy, MPGN/C3 glomerulopathy and Steroid Sensitive Nephrotic Syndrome.  I chair the Renal Association Rare Renal Disease Registry (www.rarerenal.org) and lead the UK-wide consortium that aims to interpret genomic data from the thousands of people with kidney disease participating in the 100,000 Genomes Project.

Within the UCL Department of Renal Medicine I lead the Centre for Genetics and Genomics (https://www.ucl.ac.uk/nephrology/research/centre-genetics-and-genomics). Research in the Centre aims firstly to discover genetic causes of and contributors to kidney disease; secondly to understand the underlying biological mechanisms; and thirdly to use this knowledge to develop and improve treatments.