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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
  • 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
  • 2021
    Genetics 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.

    Adam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, Lesley Ades, Lauren S Akesson, Mohammad Al-Shinnag, Stephen I Alexander, Alison D Archibald, Shanti Balasubramaniam, Yemima Berman, Victoria Beshay, Kirsten Boggs, Jasmina Bojadzieva, Natasha J Brown, Samantha J Bryen, Michael F Buckley, Belinda Chong, Mark R Davis, Ruebena Dawes, Martin Delatycki, Liz Donaldson, Lilian Downie, Caitlin Edwards, Matthew Edwards, Amanda Engel, Lisa J Ewans, Fathimath Faiz, Andrew Fennell, Michael Field, Mary-Louise Freckmann, Lyndon Gallacher, Russell Gear, Himanshu Goel, Shuxiang Goh, Linda Goodwin, Bernadette Hanna, James Harraway, Megan Higgins, Gladys Ho, Bruce K Hopper, Ari E Horton, Matthew F Hunter, Aamira J Huq, Sarah Josephi-Taylor, Himanshu Joshi, Edwin Kirk, Emma Krzesinski, Kishore R Kumar, Frances Lemckert, Richard J Leventer, Suzanna E Lindsey-Temple, Sebastian Lunke, Alan Ma, Steven Macaskill, Amali Mallawaarachchi, Melanie Marty, Justine E Marum, Hugh J McCarthy, Manoj P Menezes, Alison McLean, Di Milnes, Shekeeb Mohammad, David Mowat, Aram Niaz, Elizabeth E Palmer, Chirag Patel, Shilpan G Patel, Dean Phelan, Jason R Pinner, Sulekha Rajagopalan, Matthew Regan, Jonathan Rodgers, Miriam Rodrigues, Richard H Roxburgh, Rani Sachdev, Tony Roscioli, Ruvishani Samarasekera, Sarah A Sandaradura, Elena Savva, Tim Schindler, Margit Shah, Ingrid B Sinnerbrink, Janine M Smith, Richard J Smith, Amanda Springer, Zornitza Stark, Samuel P Strom, Carolyn M Sue, Kenneth Tan, Tiong Y Tan, Esther Tantsis, Michel C Tchan, Bryony A Thompson, Alison H Trainer, Karin van Spaendonck-Zwarts, Rebecca Walsh, Linda Warwick, Stephanie White, Susan M White, Mark G Williams, Meredith J Wilson, Wui Kwan Wong, Dale C Wright, Patrick Yap, Alison Yeung, Helen Young, Kristi J Jones, Bruce Bennetts, Sandra T Cooper,
  • 2021
    NPJ Genomic Medicine10.1038/s41525-021-00184-x

    Australia and New Zealand renal gene panel testing in routine clinical practice of 542 families.

    Hope A Tanudisastro, Katherine Holman, Gladys Ho, Elizabeth Farnsworth, Katrina Fisk, Thet Gayagay, Emma Hackett, Gemma Jenkins, Rahul Krishnaraj, Tiffany Lai, Karen Wong, Chirag Patel, Amali Mallawaarachchi, Andrew J Mallett, Bruce Bennetts, Stephen I Alexander, Hugh J McCarthy
See all Garvan publications