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Amali Mallawaarachchi

Dr Amali Mallawaarachchi

Role
Senior Research Officer
Lab/Group
Molecular Genetics of Inherited Kidney Disorders Lab

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.

Awards

  • 2020Sylvia And Charles Viertel Charitable Foundation Clinical Investigator Award
  • 2017RACP Jacquot Research Entry Scholarship in Nephrology

Selected publications

See all publications
  • 2024
    Human Genomics10.1186/s40246-024-00656-y

    Shaping the future of kidney genetics in Australia: proceedings from the KidGen policy implementation workshop 2023.

    Amali Mallawaarachchi, Erik Biros, Trudie Harris, Bruce Bennetts, Tiffany Boughtwood, Justine Elliott, Lindsay Fowles, Robert Gardos, Denisse Garza, Ilias Goranitis, Matilda Haas, Vanessa Huntley, Julia Jefferis, Karin Kassahn, Anna Leaver, Ben Lundie, Sebastian Lunke, Caitlin O'Connor, Greg Pratt, Catherine Quinlan, Dianne Shearman, Jacqueline Soraru, Madhivanan Sundaram, Michel Tchan, Giulia Valente, Julie White, Ella Wilkins, Steve I Alexander, Noa Amir, Stephanie Best, Hossai Gul, Kushani Jayasinghe, Hugh McCarthy, Chirag Patel, Zornitza Stark, Andrew J Mallett
  • 2024
    Kidney International Reports10.1016/j.ekir.2024.04.068

    Implementation and Evaluation of a National Multidisciplinary Kidney Genetics Clinic Network Over 10 Years.

    Kushani Jayasinghe, Erik Biros, Trudie Harris, Alasdair Wood, Rosie O'Shea, Lauren Hill, Lindsay Fowles, Louise Wardrop, Carolyn Shalhoub, Deirdre Hahn, Gopala Rangan, Lucy Kevin, Michel Tchan, Paul Snelling, Rhiannon Sandow, Madhivan Sundaram, Swasti Chaturvedi, Peter Trnka, Randall Faull, Nicola K Poplawski, Vanessa Huntley, Denisse Garza, Mathew Wallis, Matthew Jose, Anna Leaver, Alison H Trainer, Ella J Wilkins, Sue White, Yoni Elbaum, Yael Prawer, Emma Krzesinski, Giulia Valente, Ingrid Winship, Jessica Ryan, John Whitlam, Kathy Nicholls, Kirsty West, Liz Donaldson, Lilian Johnstone, Miranda Lewit-Mendes, Peter G Kerr, Simon Bodek, Aron Chakera, Mandi MacShane, Christine Mincham, Elaine Stackpoole, Francis Willis, Jacqueline Soraru, Nick Pachter, Bruce Bennetts, Thomas A Forbes, Amali Mallawaarachchi, Catherine Quinlan, Chirag Patel, Hugh McCarthy, Illias Goranitis, Stephanie Best, Stephen Alexander, Zornitza Stark, Andrew J Mallett
  • 2023
    NPJ Genomic Medicine10.1038/s41525-023-00362-z

    Atypical splicing variants in PKD1 explain most undiagnosed typical familial ADPKD.

    Yvonne Hort, Patricia Sullivan, Laura Wedd, Lindsay Fowles, Igor Stevanovski, Ira Deveson, Cas Simons, Andrew Mallett, Chirag Patel, Timothy Furlong, Mark J Cowley, John Shine, Amali Mallawaarachchi
  • 2023
    Genome Biology10.1186/s13059-023-02936-7

    Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications.

    Patricia J Sullivan, Velimir Gayevskiy, Ryan L Davis, Marie Wong, Chelsea Mayoh, Amali Mallawaarachchi, Yvonne Hort, Mark J McCabe, Sarah Beecroft, Matilda R Jackson, Peer Arts, Andrew Dubowsky, Nigel Laing, Marcel E Dinger, Hamish S Scott, Emily Oates, Mark Pinese, Mark J Cowley
  • 2022
    Frontiers 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.

    Jacqueline Soraru, Sadia Jahan, Catherine Quinlan, Cas Simons, Louise Wardrop, Rosie O'Shea, Alasdair Wood, Amali Mallawaarachchi, Chirag Patel, Zornitza Stark, Andrew John Mallett