Dr Hugh McCarthy
Senior Lecturer, Paediatrics and Child Health, Children's Hospital at Westmead
I am a Clinical Academic and Paediatric Nephrologist based within the The Children's Hospital at Westmead Clinical School. My research focus is into the genomic determinants of kidney disease and the molecular basis of podocytopathies. I trained in the UK and completed my PhD at the University of Bristol, under the supervision of Professor Moin Saleem. In Australia, I am a founding member of 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 800 Australian renal patients from genomic advances in the field. In my clinical role, I developed and continue to run the NSW/ACT paediatric renal genetic clinical service. I work directly with patient advocacy groups in Australia to ensure consumer engagement. I supervise PhD, Honour and MD research project students within the Centre for Kidney Research, Westmead and am currently supervising projects including: Co-development of the Renal Genetic Clinical Service; Deciphering the aetiology of non-Mendelian nephrotic syndrome; novel gene discovery in renal disease. I am CIC on the MRFF funded OPEN study of prednisolone dosing in relapses of childhood steroid sensitive nephrotic syndrome and am the Clinical Lead for the Nacuity sponsered national Phase 2 trial in Cystinosis.
Genomics of Renal Disease
Proteomics of Podocytopathies
Rare Disease Patient Registries
Nephrology
General Paediatrics
Rare Disease
MD Program Year 3 Research Project Coordinator for the CHW Clinical School
Australian and New Zealand Paediatric Nephrology Association
Australian and New Zealand Society of Nephrology
International Society of Pediatric Nephrology
International Society of Nephrology
KIDGEN National Collaborative
Board member of the Alport Foundation of Australia
(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. |
Publications
Journals
- Zhang, J., Skowno, J., Miles, I., Kim, S., Cavazzoni, E., Durkan, A., Hahn, D., McCarthy, H., Alexander, S., Thomas, G., et al (2024). Effect of perioperative management on early graft function in living donor paediatric kidney transplantation. Pediatric Nephrology. [More Information]
- Mallawaarachchi, A., Boudville, N., Burke, J., Burnett, L., Casauria, S., Chadban, S., Chakera, A., Crafter, S., Dai, P., De Fazio, P., Tchan, M., McCarthy, H., Alexander, S., et al (2024). Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical Journal of the American Society of Nephrology, 19(7), 887-897. [More Information]
- Jayasinghe, K., Hahn, D., Rangan, G., Kevin, L., Tchan, M., Snelling, P., Sandow, R., Sundaram, M., Chaturvedi, S., Trnka, P., Bennetts, B., et al (2024). Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years. Kidney International Reports. [More Information]
2024
- Zhang, J., Skowno, J., Miles, I., Kim, S., Cavazzoni, E., Durkan, A., Hahn, D., McCarthy, H., Alexander, S., Thomas, G., et al (2024). Effect of perioperative management on early graft function in living donor paediatric kidney transplantation. Pediatric Nephrology. [More Information]
- Mallawaarachchi, A., Boudville, N., Burke, J., Burnett, L., Casauria, S., Chadban, S., Chakera, A., Crafter, S., Dai, P., De Fazio, P., Tchan, M., McCarthy, H., Alexander, S., et al (2024). Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clinical Journal of the American Society of Nephrology, 19(7), 887-897. [More Information]
- Jayasinghe, K., Hahn, D., Rangan, G., Kevin, L., Tchan, M., Snelling, P., Sandow, R., Sundaram, M., Chaturvedi, S., Trnka, P., Bennetts, B., et al (2024). Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years. Kidney International Reports. [More Information]
2023
- Kermond, R., Mallett, A., McCarthy, H. (2023). A clinical approach to tubulopathies in children and young adults. Pediatric Nephrology, 38(3), 651-662. [More Information]
- Malakasioti, G., Iancu, D., Milovanova, A., Tsygin, A., Horinouchi, T., Nagano, C., Nozu, K., Kamei, K., Fujinaga, S., Iijima, K., McCarthy, H., et al (2023). A multicenter retrospective study of calcineurin inhibitors in nephrotic syndrome secondary to podocyte gene variants. Kidney International, 103(5), 962-972. [More Information]
- Guha, C., Ahmad, R., Van Zwieten, A., Francis, A., Hawley, C., Jaure, A., Teixeira-Pinto, A., Mallard, A., Bernier-Jean, A., Johnson, D., McCarthy, H., Howard, K., Howell, M., Irving, M., Caldwell, P., Carter, S., et al (2023). Baseline characteristics of participants in the NAVKIDS2 trial: a patient navigator program in children with chronic kidney disease. Pediatric Nephrology, 38(5), 1577-1590. [More Information]
2022
- Bierzynska, A., Bull, K., Miellet, S., Dean, P., Neal, C., Colby, E., McCarthy, H., Hegde, S., Sinha, M., Bugarin Diz, C., et al (2022). Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model. Pediatric Nephrology, 37(11), 2643-2656. [More Information]
- Francis, A., Prestidge, C., Kausman, J., Le Page, A., Larkins, N., McCarthy, H. (2022). Impact of initial steroid response on transplant outcomes in children with steroid-resistant nephrotic syndrome. Pediatric Nephrology, 37(5), 1149-1156. [More Information]
- Wang, Y., Shaw, K., Zhang, G., Chung, E., Hu, M., Cao, Q., Wang, Y., Zheng, G., Wu, H., Chadban, S., McCarthy, H., Harris, D., Alexander, S., et al (2022). Interleukin-33 Exacerbates IgA Glomerulonephritis in Transgenic Mice Overexpressing B Cell Activating Factor. Journal of the American Society of Nephrology, 33(5), 966-984. [More Information]
2021
- Amir, N., McCarthy, H., Jaure, A. (2021). A working partnership: A review of shared decision-making in nephrology. Nephrology, 26(11), 851-857. [More Information]
- Tanudisastro, H., Holman, K., Ho, G., Farnsworth, E., Fisk, K., Gayagay, T., Hackett, E., Jenkins, G., Krishnaraj, R., Lai, T., Bennetts, B., Alexander, S., McCarthy, H., et al (2021). Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families. npj Genomic Medicine, 6(1), 20. [More Information]
- Amir, N., McCarthy, H., Jaure, A. (2021). Qualitative Research in Nephrology: An Introduction to Methods and Critical Appraisal. Kidney360, 2(4), 737-741. [More Information]
2020
- Jones, L., Lam, R., McKee, K., Aleksandrova, M., Dowling, J., Alexander, S., Mallawaarachchi, A., Cottle, D., Short, K., Pais, L., McCarthy, H., et al (2020). A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development, 147(21). [More Information]
- Raaijmakers, A., Craig, E., Kim, S., Kennedy, S., McCarthy, H. (2020). Adrenocorticotrophic Hormone-Induced Remission of Pediatric Post-transplantation Recurrent Focal Segmental Glomerulosclerosis. Kidney International Reports, 5(2), 239-243. [More Information]
2019
- Jayasinghe, K., Stark, Z., Patel, C., Mallawaarachchi, A., McCarthy, H., Faull, R., Chakera, A., Sundaram, M., Jose, M., Kerr, P., et al (2019). Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: A study protocol. BMJ Open, 9(8), 1-8. [More Information]
- Gray, P., McCarthy, H., Siggs, O., Saleem, M., O' Brien, T., Frith, K., Ziegler, J., Kitching, A., Fogo, A., Hudson, B., et al (2019). Molecular Analysis of Goodpasture’s Disease Following Hematopoietic Stem Cell Transplant in a Pediatric Patient, Recalls the Conformeropathy of Wild-Type Anti-GBM Disease. Frontiers in Immunology, 10. [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., McCarthy, H., Soderquest, K., Sen, E., Colby, E., Ding, W., Nabhan, M., Kerecuk, L., Hegde, S., Hughes, D., et al (2017). Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management. Kidney International, 91(4), 937-947. [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(5), 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]