Current Position, Affiliation
- Laboratory Head, Garvan Institute of Medical Research, Sydney, Australia
- Clinical Geneticist and Nephrologist, Royal Prince Alfred Hospital, Sydney Australia
Education / Training
- 2006, M.D., James Cook University, Townsville, Australia
- 2019, PhD., University of New South Wales, Sydney, Australia
Professional and Research Experience
- 2018 - Present, Staff Specialist, Royal Prince Alfred Hospital, Sydney, Australia
- 2019 - 2024, Research Fellow, Garvan Institute of Medical Research, Sydney, Australia
- 2024 - Present, Laboratory Head, Garvan Institute of Medical Research, Sydney, Australia
Selected Publications
- Mallawaarachchi AC, Hort Y, Wedd L, et al. Somatic mutation in autosomal dominant polycystic kidney disease revealed by deep sequencing human kidney cysts. NPJ Genom Med. 2024 Dec 19;9(1):69.
- Mallawaarachchi AC, Fowles L, Wardrop L, et al. Genomic Testing in Patients with Kidney Failure of an Unknown Cause: A National Australian Study. Clin J Am Soc Nephrol. 2024 Jul 1;19(7):887-897.
- Hort, Y., Sullivan, P., Wedd, L., Fowles, L., Stevanovski, I., Deveson, I., Simons, C., Mallett, A., Patel, C., Furlong, T., Cowley, M. J., Shine, J., & Mallawaarachchi, A. (2023). Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD. NPJ genomic medicine, 8(1), 16.
- Mallawaarachchi, A. C., Lundie, B., Hort, Y., et al. (2021). Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing. European journal of human genetics, 29(5), 760–770.
- Mallawaarachchi, A. C., Hort, Y., Cowley, M. J., et al. (2016). Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease. European journal of human genetics, 24(11), 1584–1590.
Genomics in CKD
Role
Moderator
Date & Time
12/07 09:30 - 10:45
Place
Room 7 ( 703 )