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    Professor David Thorburn

Professor Thorburn is the Theme Director of Genetics and Group Leader of Mitchondrial Research at the Murdoch Childrens Research Institute. He received his PhD from the University of Sydney before completing a Fulbright Fellowship at Scripps Clinic, La Jolla, California. His laboratory is the national referral centre for the diagnosis of mitochondrial disease in children, and has identified disease-causing mutations in over 280 patients in a total of eight mtDNA genes, 25 nuclear genes in which mutations had previously been described and 16 novel nuclear disease genes, including five of the nine known Complex I assembly defect genes.