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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

  • Wu, Y, Balasubramaniam, S, Rius, R, Thorburn, DR, Christodoulou, J, Goranitis, I. Genomic sequencing for the diagnosis of childhood mitochondrial disorders: a health economic evaluation.. Eur J Hum Genet 30(5) : 577 -586 2022
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  • Akesson, LS, Rius, R, Brown, NJ, Rosenbaum, J, Donoghue, S, Stormon, M, Chai, C, Bordador, E, Guo, Y, Hakonarson, H, et al. Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.. JIMD Rep 63(3) : 240 -249 2022
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  • Guimier, A, Achleitner, MT, Moreau de Bellaing, A, Edwards, M, de Pontual, L, Mittal, K, Dunn, KE, Grove, ME, Tysoe, CJ, Dimartino, C, et al. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.. Genet Med 24(4) : 967 2022
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  • Jackson, TD, Crameri, JJ, Muellner-Wong, L, Frazier, AE, Palmer, CS, Formosa, LE, Hock, DH, Fujihara, KM, Stait, T, Sharpe, AJ, et al. Sideroflexin 4 is a complex I assembly factor that interacts with the MCIA complex and is required for the assembly of the ND2 module.. Proc Natl Acad Sci U S A 119(13) : e2115566119 2022
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  • Hock, DH, Compton, AG, Amarasekera, SSC, Frazier, AE, Helman, G, Lake, NJ, Semcesen, LN, Stark, Z, Lek, M, Simons, C, et al. Mainstreaming proteomics into rare disease diagnostics. 2022
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