photo of Prof David Thorburn

Prof David Thorburn

Prof David Thorburn

Details

Role Group Leader / Snr Princ Research Fellow
Research area Genetics

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

  • Frazier, AE, Compton, AG, Kishita, Y, Hock, DH, Welch, AE, Amarasekera, SSC, Rius, R, Formosa, LE, Imai-Okazaki, A, Francis, D, et al. Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus. Med 2(1) : 49 -73.e10 2020
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  • Kiss, S, Christodoulou, J, Thorburn, DR, Freeman, JL, Kornberg, AJ, Mandelstam, S, Compton, AG, Cummings, B, Pais, L, Yaplito‐Lee, J, et al. A cryptic pathogenic NDUFV1 variant identified by RNA‐seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes. American Journal of Medical Genetics Part A 2023
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  • Stark, Z, Boughtwood, T, Haas, M, Braithwaite, J, Gaff, CL, Goranitis, I, Spurdle, AB, Hansen, DP, Hofmann, O, Laing, N, et al. Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare. American Journal of Human Genetics 110(3) : 419 -426 2023
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  • Van Haute, L, O’Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH, Arunachal, G, Athanasiou-Fragkouli, A, Bardhan, M, Barth, M, et al. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nature Communications 14(1) : 1009 2023
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  • Poquérusse, J, Nolan, M, Thorburn, DR, Van Hove, JLK, Friederich, MW, Love, DR, Taylor, J, Powell, CA, Minczuk, M, Snell, RG, et al. Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of CARS2‐related mitochondrial disease. 2023
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