Dr Hugh McCarthy (PhD FRACP) is a Clinical Academic and Senior Lecturer within the Clinical School of the Children’s Hospital at Westmead, University of Sydney and Paediatric Nephrologist at the Sydney Children’s Hospitals Network. Hugh completed his training within the UK including obtaining a PhD at the University of Bristol, UK. His thesis was on the development of a national patient registry, RADAR (rarerenal.org) and identification of genetic and non-genetic aetiology of childhood steroid resistant nephrotic syndrome. In Australia he has established and runs the NSW/ACT paediatric renal genetic clinical service. His ongoing research focuses on the care of children living with rare and genetic renal disease and the study of the pathogenesis of nephrotic syndrome both genetic and immune mediated. He is a founder member of the Australasian KidGen collaborative working to improve all aspects of renal genomic care including diagnostics and therapeutics. His research spans the study of the needs of patients and families attending renal genetic clinics to the laboratory based analysis of the molecular pathways of immune mediated nephrotic syndrome together with the identification of novel genes associated with inherited kidney disease. He is collaborating with the Queensland University of Technology to launch the Australian Registry of Rare and Genetic Kidney Disease, later this year. This patient registry will enable cohort build of rare kidneys disease with clinical data entry but also patient reported outcomes and experiences.
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