I conduct research into genetic kidney disease and perform a weekly nephrology clinic specializing in the care of patients and families with hereditary kidney problems, including polycystic kidney disease, unexplained familial kidney failure, inherited microscopic haematuria syndromes and renal cancer syndromes.

Using linkage mapping, next generation sequencing and other techniques I have described and identified the molecular defects responsible for the genetic diseases HIF2α erythrocytosis, 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.

Ongoing projects aim firstly to improve understanding of the pathophysiology of 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 genetic change responsible in each one.