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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
  • 2025
    BMC Nephrology10.1186/s12882-024-03926-y

    Enhancing diagnostic outcomes in kidney genetic disorders: the KidGen national kidney genomics study protocol.

    Amali Mallawaarachchi, Hugh McCarthy, Thomas A Forbes, Kushani Jayasinghe, Chirag Patel, Stephen I Alexander, Tiffany Boughtwood, Jeffrey Braithwaite, Aron Chakera, Sam Crafter, Ira W Deveson, Randall Faull, Trudie Harris, Lilian Johnstone, Matthew Jose, Anna Leaver, Melissa H Little, Daniel MacArthur, Tessa Mattiske, Christine Mincham, Kathy Nicholls, Catherine Quinlan, Michael C J Quinn, Gopala Rangan, Jessica Ryan, Cas Simons, Ian Smyth, Madhivanan Sundaram, Peter Trnka, Laura Wedd, Erik Biros, Zornitza Stark, Andrew Mallett
  • 2025
    Journal of Nephrology10.1007/s40620-025-02211-x

    The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.

    Elhussein A E Elhassan, Kane E Collins, Sophia Heneghan, Edmund Gilbert, Hana Yang, Sarah R Senum, Rachel S Schauer, Doaa E Elbarougy, Stephen F Madden, Susan L Murray, Omid Sadeghi-Alavijeh, Joshua Carmichael, Daniel Gale, Shohdan M Osman, Claire Kennedy, Matthew D Griffin, Liam Casserly, Brona Moloney, Paul O'Hara, Amali Mallawaarachchi, Francesca Ciurli, , Claudio Graziano, Constantin A Wolff, Ria Schönauer, Gaetano LaManna, Axelle Durand, Sophie Limou, Jan Halbritter, Irene Capelli, Emma McCann, Peter C Harris, Gianpiero L Cavalleri, Katherine A Benson, Peter J Conlon
  • 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