Dr Hugh McCarthy is a paediatric nephrologist at Sydney Children's Hospitals Network (Randwick) and clinician-researcher in the School of Women's & Children's Health, UNSW Sydney. His research focus is in the field of rare disease, particularly the use of patient registries and the provision of a centralised portal for patient and family information; the genomic determinants of renal disease and the proteomics of podocytopathies.

Dr McCarthy trained in the UK and completed my PhD at the University of Bristol, under the supervision of Professor Moin Saleem. His work included the development of RADAR the UK Rare Renal Disease Registry; the original use of massively parallel sequencing in steroid resistant nephrotic syndrome (SRNS); and the identification of key molecular pathways in SRNS. He is co-lead in the KIDGEN initiative - a national multidisciplinary collaborative studying the aetiology and management of genetic kidney disease. He co-designed the first diagnostic Australian Renal Gene Panel service, conferring direct benefit to over 500 Australian renal patients from genomic advances in the field.

Dr McCarthy developed an Australian patient registry and online information hub to be launched in late 2018 which will enable the build of national cohorts of patients with rare disease and inter-operability with international registries. He works directly with patient advocacy groups in Australia to ensure consumer engagement.

He supervises students and research assistants within the Nephrology Department.