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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

  • White, SL, Shanske, S, Biros, I, Warwick, L, Dahl, HM, Thorburn, DR, Di Mauro, S. Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA.. Prenat Diagn 19(12) : 1165 -1168 1999
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  • White, SL, Shanske, S, McGill, JJ, Mountain, H, Geraghty, MT, DiMauro, S, Dahl, HH, Thorburn, DR. Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.. J Inherit Metab Dis 22(8) : 899 -914 1999
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  • Dahl, HH, Osborn, AH, Hutchison, WM, Thorburn, DR, Sheffield, LJ. Late diagnosis of maternal PKU in a family segregating an arylsulfatase [corrected] E mutation causing symmetrical chondrodysplasia punctata.. Mol Genet Metab 68(4) : 503 -506 1999
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  • FitzPatrick, DR, Hill, A, Tolmie, JL, Thorburn, DR, Christodoulou, J. The molecular basis of malonyl-CoA decarboxylase deficiency.. Am J Hum Genet 65(2) : 318 -326 1999
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  • White, SL, Collins, VR, Wolfe, R, Cleary, MA, Shanske, S, DiMauro, S, Dahl, HH, Thorburn, DR. Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993.. Am J Hum Genet 65(2) : 474 -482 1999
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