Dr Hugh McCarthy

BSc, MBBS, MRCPCH, PhD, FRACP
Staff Specialist Paediatric Nephrology, Sydney Children's Hospital Network
Clinical Lecturer, Paediatrics and Child Health, Children's Hospital at Westmead

Telephone 02

Website Australasian Registry of Rare and Genetic Kidney DIsease
Curriculum vitae Curriculum vitae

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Biographical details

I am a paediatric nephrologist and clinician researcher. I run the NSW paediatric renal genetic clinical service. My 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. I trained in the UK and completed my PhD at the University of Bristol, under the supervision of Professor Moin Saleem. My 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. I am co-lead in the KIDGEN initiative - a national multidisciplinary collaborative studying the aetiology and management of genetic kidney disease. I co-designed the first diagnostic Australian Renal Gene Panel service, confering direct benefit to over 500 Australian renal patients from genomic advances in the field. I have developed an Australian patient registry and online information hub to be launched in late 2018 which will enable the build of natioanl cohorts of patients with rare disease and interoperability with international registries. I work direcetly with patientadvocacy groups in Australia to ensure consumer engagement. I supervise students and research assitants within the Centre for Kidney Research and am currently supervising projects including: The psychosocial burden of genetic testing in the renal clinic; deciphering the aetiology of non-Mendelian nephrotic syndrome; novel gene discovery in renal disease and am local CI for a clinical trial for patients with Alport Syndrome.

Research interests

Genomics of Renal Disease

Proteomics of Podocytopathies

Rare Disease Patient Registries

Keywords

Proteomics; Cell biology; Nephrology; Genetic diseases

Clinical Specialty

Paediatrics

International links

Canada

(The Hospital for Sick Children, University of Toronto) Working with Dr Rulan Parekh's group on the INSIGHT study looking to open an Australasian arm to the study.

United Kingdom

(University of Bristol) Prof Moin Saleem's Academic Renal Unit within the University of Bristol. Previous PhD supervisor. Collaborting on gene discovery projects, rare disease registries and wet lab cell lines work.

Selected publications

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Journals

  • Francis, A., Didsbury, M., McCarthy, H., Kara, T. (2018). Treatment of recurrent focal segmental glomerulosclerosis post-kidney transplantation in Australian and New Zealand children: A retrospective cohort study. Pediatric Transplantation, 22(5), 1-7. [More Information]
  • Bierzynska, A., Soderquest, K., Dean, P., Colby, E., Rollason, R., Jones, C., Inward, C., McCarthy, H., Simpson, M., et al (2017). MAGI2 Mutations Cause Congenital Nephrotic Syndrome. Journal of the American Society of Nephrology, 28, 1614-1621. [More Information]
  • Mallett, A., McCarthy, H., Ho, G., Holman, K., Farnsworth, E., Patel, C., Fletcher, J., Mallawaarachchi, A., Quinlan, C., Bennetts, B., Alexander, S. (2017). Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney International, 92(6), 1493-1506. [More Information]
  • Ebarasi, L., Ashraf, S., Bierzynska, A., Gee, H., McCarthy, H., Lovric, S., Sadowski, C., Pabst, W., Vega-Warner, V., et al (2015). Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome. American Journal of Human Genetics, 96(1), 153-161. [More Information]
  • Mallett, A., Corney, C., McCarthy, H., Alexander, S., Healy, H. (2015). Genomics in the renal clinic-translating nephrogenetics for clinical practice. Human Genomics (Online), 9(1), 1-4. [More Information]
  • Ding, W., Koziell, A., McCarthy, H., Bierzynska, A., Bhagavatula, M., Dudley, J., Inward, C., Coward, R., Tizard, E., et al (2014). Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence. Journal of the American Society of Nephrology, 25(6), 1342-1348. [More Information]
  • Harris, J., McCarthy, H., Ni, L., Wherlock, M., Kang, H., Wetzels, J., Welsh, G., Saleem, M. (2013). Active proteases in nephrotic plasma lead to a podocin-dependent phosphorylation of VASP in podocytes via protease activated receptor-1. Journal of Pathology, 229(5), 660-671. [More Information]
  • McCarthy, H., Bierzynska, A., Wherlock, M., Ognjanovic, M., Kerecuk, L., Hegde, S., Feather, S., Gilbert, R., Krischock, L., Jones, C., et al (2013). Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome. Clinical Journal of the American Society of Nephrology, 8(4), 637-648. [More Information]
  • McCarthy, H., Saleem, M. (2011). Genetics in clinical practice: nephrotic and proteinuric syndromes. Nephron Experimental Nephrology, 118(1), e1-e8. [More Information]
  • McCarthy, H., Inward, C., Marriage, S., Astley, P., Tizard, E. (2011). Red cell exchange transfusion as a rescue therapy for tacrolimus toxicity in a paediatric renal transplant. Pediatric Nephrology, 26(12), 2245-2248. [More Information]
  • McCarthy, H., Tizard, E. (2010). Clinical practice: diagnosis and management of Henoch-Schonlein purpura. European Journal of Pediatrics, 169(6), 643-650. [More Information]
  • Edwards, A., McCarthy, H., Morgan, J., Saleem, M. (2010). Paediatric non-heart-beating renal transplantation. Archives of Disease in Childhood, 95(10), 843-844. [More Information]

2018

  • Francis, A., Didsbury, M., McCarthy, H., Kara, T. (2018). Treatment of recurrent focal segmental glomerulosclerosis post-kidney transplantation in Australian and New Zealand children: A retrospective cohort study. Pediatric Transplantation, 22(5), 1-7. [More Information]

2017

  • Bierzynska, A., Soderquest, K., Dean, P., Colby, E., Rollason, R., Jones, C., Inward, C., McCarthy, H., Simpson, M., et al (2017). MAGI2 Mutations Cause Congenital Nephrotic Syndrome. Journal of the American Society of Nephrology, 28, 1614-1621. [More Information]
  • Mallett, A., McCarthy, H., Ho, G., Holman, K., Farnsworth, E., Patel, C., Fletcher, J., Mallawaarachchi, A., Quinlan, C., Bennetts, B., Alexander, S. (2017). Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders. Kidney International, 92(6), 1493-1506. [More Information]

2015

  • Ebarasi, L., Ashraf, S., Bierzynska, A., Gee, H., McCarthy, H., Lovric, S., Sadowski, C., Pabst, W., Vega-Warner, V., et al (2015). Defects of CRB2 Cause Steroid-Resistant Nephrotic Syndrome. American Journal of Human Genetics, 96(1), 153-161. [More Information]
  • Mallett, A., Corney, C., McCarthy, H., Alexander, S., Healy, H. (2015). Genomics in the renal clinic-translating nephrogenetics for clinical practice. Human Genomics (Online), 9(1), 1-4. [More Information]

2014

  • Ding, W., Koziell, A., McCarthy, H., Bierzynska, A., Bhagavatula, M., Dudley, J., Inward, C., Coward, R., Tizard, E., et al (2014). Initial steroid sensitivity in children with steroid-resistant nephrotic syndrome predicts post-transplant recurrence. Journal of the American Society of Nephrology, 25(6), 1342-1348. [More Information]

2013

  • Harris, J., McCarthy, H., Ni, L., Wherlock, M., Kang, H., Wetzels, J., Welsh, G., Saleem, M. (2013). Active proteases in nephrotic plasma lead to a podocin-dependent phosphorylation of VASP in podocytes via protease activated receptor-1. Journal of Pathology, 229(5), 660-671. [More Information]
  • McCarthy, H., Bierzynska, A., Wherlock, M., Ognjanovic, M., Kerecuk, L., Hegde, S., Feather, S., Gilbert, R., Krischock, L., Jones, C., et al (2013). Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome. Clinical Journal of the American Society of Nephrology, 8(4), 637-648. [More Information]

2011

  • McCarthy, H., Saleem, M. (2011). Genetics in clinical practice: nephrotic and proteinuric syndromes. Nephron Experimental Nephrology, 118(1), e1-e8. [More Information]
  • McCarthy, H., Inward, C., Marriage, S., Astley, P., Tizard, E. (2011). Red cell exchange transfusion as a rescue therapy for tacrolimus toxicity in a paediatric renal transplant. Pediatric Nephrology, 26(12), 2245-2248. [More Information]

2010

  • McCarthy, H., Tizard, E. (2010). Clinical practice: diagnosis and management of Henoch-Schonlein purpura. European Journal of Pediatrics, 169(6), 643-650. [More Information]
  • Edwards, A., McCarthy, H., Morgan, J., Saleem, M. (2010). Paediatric non-heart-beating renal transplantation. Archives of Disease in Childhood, 95(10), 843-844. [More Information]

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