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Details

Role Group Leader / Snr Princ Research Fellow
Research area Genomic Medicine

Contact

Professor David Thorburn is co-Group Leader of Brain & Mitochondrial Research at the Murdoch Children's Research Institute and an Honorary Professorial Fellow in the Department of Paediatrics at the University of Melbourne. He is also a National Health & Medical Research Council Principal Research Fellow and leads the Victorian Clinical Genetics Services Mitochondrial Diagnostic Laboratory.
His group is primarily involved in researching the genetic basis of mitochondrial energy generation disorders. They were among the first to use Next Generation Sequencing technologies to identify mutations in known and novel disease genes. This subsequently expanded into multi-omic approaches incorporating transcriptomics and proteomics to identify candidate genes and provide functional validation of genomic variants. His team has identified pathogenic mutations in >600 patients in >100 genes, including 13 mitochondrial DNA genes and 30 novel nuclear disease genes.
As co-lead of the Australian Genomics Mitochondrial Flagship (2017-20) and Lead of the Medical Research Future Fund-supported MitoMDT project (2021-25), he has developed national networks seeking to incorporate genomic and multi-omic testing into Australian healthcare. He is a member of the executive of RDNow, whose vision is to enable all children seen on the Royal Children’s Hospital campus with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention. As a Director of the Mito Foundation, he was the academic/research Lead for the Foundation’s campaign to legalise mitochondrial donation, culminating in Maeve’s law being legislated in 2022.
Professor David Thorburn is co-Group Leader of Brain & Mitochondrial Research at the Murdoch Children's Research Institute and an Honorary Professorial Fellow in the Department of Paediatrics at the University of Melbourne. He is also a National...
Professor David Thorburn is co-Group Leader of Brain & Mitochondrial Research at the Murdoch Children's Research Institute and an Honorary Professorial Fellow in the Department of Paediatrics at the University of Melbourne. He is also a National Health & Medical Research Council Principal Research Fellow and leads the Victorian Clinical Genetics Services Mitochondrial Diagnostic Laboratory.
His group is primarily involved in researching the genetic basis of mitochondrial energy generation disorders. They were among the first to use Next Generation Sequencing technologies to identify mutations in known and novel disease genes. This subsequently expanded into multi-omic approaches incorporating transcriptomics and proteomics to identify candidate genes and provide functional validation of genomic variants. His team has identified pathogenic mutations in >600 patients in >100 genes, including 13 mitochondrial DNA genes and 30 novel nuclear disease genes.
As co-lead of the Australian Genomics Mitochondrial Flagship (2017-20) and Lead of the Medical Research Future Fund-supported MitoMDT project (2021-25), he has developed national networks seeking to incorporate genomic and multi-omic testing into Australian healthcare. He is a member of the executive of RDNow, whose vision is to enable all children seen on the Royal Children’s Hospital campus with a rare disease to receive an accurate diagnosis, care, and available therapy within one year of coming to medical attention. As a Director of the Mito Foundation, he was the academic/research Lead for the Foundation’s campaign to legalise mitochondrial donation, culminating in Maeve’s law being legislated in 2022.

Top Publications

  • Jackson, TD, Hock, DH, Fujihara, KM, Palmer, CS, Frazier, AE, Low, YC, Kang, Y, Ang, C-S, Clemons, NJ, Thorburn, DR, et al. The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism.. Mol Biol Cell 32(6) : 475 -491 2021
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  • Wintjes, LTM, Kava, M, van den Brandt, FA, van den Brand, MAM, Lapina, O, Bliksrud, YT, Kulseth, MA, Amundsen, SS, Selberg, TR, Ybema-Antoine, M, et al. A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.. Hum Mutat 42(2) : 135 -141 2021
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  • Helman, G, Compton, AG, Hock, DH, Walkiewicz, M, Brett, GR, Pais, L, Tan, TY, De Paoli-Iseppi, R, Clark, MB, Christodoulou, J, et al. Multiomic analysis elucidates Complex I deficiency caused by a deep intronic variant in NDUFB10.. Hum Mutat 42(1) : 19 -24 2021
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  • Tucker, EJ, Rius, R, Jaillard, S, Bell, K, Lamont, PJ, Travessa, A, Dupont, J, Sampaio, L, Dulon, J, Vuillaumier-Barrot, S, et al. Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).. Hum Genet 139(10) : 1325 -1343 2020
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  • Riley, LG, Rudinger-Thirion, J, Frugier, M, Wilson, M, Luig, M, Alahakoon, TI, Nixon, CY, Kirk, EP, Roscioli, T, Lunke, S, et al. The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.. Hum Mutat 41(8) : 1425 -1434 2020
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