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, unexplained familial kidney failure, renal cancer syndromes and other genetic disorders. 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 the genes important in a range of more common kidney diseases, including IgA nephropathy and Steroid Sensitive Nephrotic Syndrome. 

Ongoing projects aim firstly to improve understanding of the precise biological mechanism underlying these diseases; secondly to develop rational approaches to their treatment; and thirdly to investigate other families with inherited kidney disease in order to uncover the cause in each one. I chair the Renal Association Rare Diseases Committee 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.

For private appointments please contact Samira Alshayeb, Email: samira.alshayeb@nhs.net or telephone +44 (0)2077940500 ext 36022