Genetics of kidney disease

Genetics of kidney disease
Genetics of kidney disease
Gale, Daniel
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Daniel Gale specialises in genetic kidney disease and runs a clinic caring for patients and families with familial kidney problems – of either a known cause (such as polycystic kidney disease, kidney cancer syndromes, Alport disease and thin basement membrane nephropathy) or of unknown cause. Where possible, patients are offered the opportunity to participate in research, clinical trials, and registries.
Using laboratory tools including linkage mapping, next generation sequencing and other techniques, we have identified the molecular defects responsible for two novel human 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 Cyprus.
Ongoing projects aim firstly to understand the pathophysiology of these diseases and in particular the role of the complement system in kidney disease; secondly to develop approaches to the treatment of genetic kidney diseases; and thirdly to investigate other families with unexplained inherited kidney diseases in order to uncover the genes responsible.

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Genetics of kidney disease