Dr Amali Mallawaarachchi
Dr Amali Mallawaarachchi is a Clinician-Scientist whose current research focuses on understanding the molecular basis of polycystic kidney disease through the application of the latest sequencing technologies. Major areas in this project include investigating novel mutational mechanisms in cyst development and in genetically undiagnosed polycystic kidney disease families. Amali studied Medicine at James Cook University in Queensland, then completed her Physician Training in Sydney. She is Australia's first dual-trained Clinical Geneticist and Nephrologist. Amali completed her PhD at the Garvan Institute of Medical Research under the supervision of Professor John Shine and Associate Professor Mark Cowley, focusing on molecular diagnostics in polycystic kidney disease. As part of her studies, she developed the world-first whole genome sequencing-based diagnostic test for Autosomal Dominant Polycystic Kidney Disease.
- 2017RACP Jacquot Research Entry Scholarship in Nephrology
- 2020Sylvia And Charles Viertel Charitable Foundation Clinical Investigator Award
- 2023NPJ genomic medicine10.1038/s41525-023-00362-z
Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.
- 2023Genome biology10.1186/s13059-023-02936-7
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.
- 2022Frontiers in medicine10.3389/fmed.2022.891223
The HIDDEN Protocol: An Australian Prospective Cohort Study to Determine the Utility of Whole Genome Sequencing in Kidney Failure of Unknown Aetiology.
- 2021Genetics in medicine : official journal of the American College of Medical Genetics10.1016/j.gim.2021.09.001
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
- 2021NPJ genomic medicine10.1038/s41525-021-00184-x
Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.