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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

  • Wiltshire, E, Davidzon, G, DiMauro, S, Akman, HO, Sadleir, L, Haas, L, Zuccollo, J, McEwen, A, Thorburn, DR. Juvenile Alpers disease.. Arch Neurol 65(1) : 121 -124 2008
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  • McKenzie, M, Lazarou, M, Dunning, CJR, Sugiana, C, Thorburn, DR, Ryan, MT. 2 Mitochondrial and nuclear encoded subunit assembly into Complex I and assembly defects in mitochondrial disease. Mitochondrion 7(6) : 404 2007
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  • Dunning, CJR, McKenzie, M, Sugiana, C, Lazarou, M, Silke, J, Connelly, A, Fletcher, JM, Kirby, DM, Thorburn, DR, Ryan, MT. Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.. EMBO J 26(13) : 3227 -3237 2007
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  • Hakonen, AH, Davidzon, G, Salemi, R, Bindoff, LA, Van Goethem, G, Dimauro, S, Thorburn, DR, Suomalainen, A. Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.. Eur J Hum Genet 15(7) : 779 -783 2007
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  • Lazarou, M, McKenzie, M, Ohtake, A, Thorburn, DR, Ryan, MT. Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I.. Mol Cell Biol 27(12) : 4228 -4237 2007
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