Dr Amali Mallawaarachchi
Research Level
Biography
Dr 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.
Dr Mallawaarachchi 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. Dr Mallawaarachchi completed her PhD at The Garvan Institute under the supervision of Prof John Shine and A/Prof 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.
Dr 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.
Dr Mallawaarachchi 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. Dr Mallawaarachchi completed her PhD at The Garvan Institute under the supervision of Prof John Shine and A/Prof 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 and Honours
2017/2018 - RACP Jacquot Research Entry Scholarship in Nephrology
Education
2017 - Specialist in Clinical Genetics, Royal Australasian College of Physicians
2015 - Fellowship & Specialist in Nephrology, Royal Australasian College of Physicians
2006 - Bachelor of Medicine, Bachelor of Surgery, James Cook University, Australia
Selected Publications
Huynh, VT, Audrézet, MP, Sayer, JA, Ong, AC, Lefevre, S, Le Brun, V, Després, A, Senum, SR, Chebib, FT, Barroso-Gil, M, Patel, C, Mallett, AJ, Goel, H, Mallawaarachchi, AC, Van Eerde, AM, Ponlot, E, Kribs, M, Genkyst Study Group, Genomics England Research Consortium, Le Meur, Y, Harris, PC, Cornec-Le Gall, E. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease. Kidney international, 2020 S0085-2538(20)30264-7. https://doi.org/10.1016/j.kint.2020.02.022
Jones, LK, Lam, R, McKee, KK, Aleksandrova, M, Dowling, J, Alexander, SI, Mallawaarachchi, A, Cottle, DL, Short, KM, Pais, L, Miner, JH, Mallett, AJ, Simons, C, McCarthy, H, Yurchenco, PD, & Smyth, IM, A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development. 2020:147(21):dev189183. https://doi.org/10.1242/dev.189183
Mallawaarachchi A, et al, ‘Population data improves variant interpretation in Autosomal Dominant Polycystic Kidney Disease’, Genetics in Medicine, 2019, Jun;21(6):1425-1434.
Jayasinghe K, Stark Z, Patel C, Mallawaarachchi A, et al Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol BMJ Open 2019;9:e029541. doi: 10.1136/bmjopen-2019-029541
Kim, A., Kumar, K.R., Davis, R.L., Mallawaarachchi A., et al. ‘Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing’. Cerebellum 2019:18:781. https://doi.org/10.1007/s12311-019-01038-0
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusav P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi, A. et al Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity. Human Mutation. 2019 doi:10.1002/humu.23936.
Jayasinghe K, Quinlan C, Stark Z, Patel C, Mallawaarachchi A, Wardrop L, Kerr, P, Trnka P, Mallett A, On Behalf Of The Kidgen Collaborative, ‘Renal genetics in Australia: Kidney medicine in the genomic age’, Nephrology, 2019 Mar;24(3):279-286.
Mallett, A, McCarthy H, Ho Gladys, Holman K, Mallawaarachchi A, Patel C et al. ‘Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders’, Kidney International, 2017 Dec:92(6):1493-1506.
Mallawaarachchi A, Hort Y, Cowley M et al, ‘Whole-genome sequencing overcomes pseudogene homology to diagnose Autosomal Dominant Polycystic Kidney Disease, Eur J Hum Genet. 2016 Nov;24(11):1584-1590.
Mallawaarachchi A and Collins F, ‘Testing the complex child: CGH Array, WES, Clinical Exome, WGS’, Current Pediatrics Reports 2016 Dec: 4(4):155-163.
