Professor David Thorburn

 - Partner Investigator

Research focus: Inherited metabolic disorders, particularly those affecting mitochondrial energy generation

Professor David Thorburn leads the Mitochondrial Research Group at Murdoch Children’s Research Institute and is a co-Leader of the Australian Genomics Rare Diseases Flagship. He is an Honorary Professorial Fellow in the Department of Paediatrics, University of Melbourne, a former President of the Human Genetics Society of Australasia and a Fellow of the Faculty of Science of the Royal College of Pathologists of Australasia.

David’s laboratory has acted for over 25 years as the Australasian referral centre for children suspected of inherited disorders of mitochondrial energy generation, which comprise more than 300 monogenic disorders. Much of his research has focused on identification of the genomic basis of these disorders and his group has identified over 20 novel disease genes. His interest in stem cell biology is driven by (i) the need for functional validation of genomic studies, which is complicated by many mitochondrial disorders being tissue-specific, and (ii) the lack of effective treatments for this heterogeneous group of disorders, which necessitates development of better disease models to understand pathogenic mechanisms and to perform preclinical treatment studies.

David has collaborated with stem cell experts at MCRI and nationally, particularly Dave Elliott and Andrew Elefanty, to generate a panel of human stem cell lines with defects in a range of nuclear-encoded mitochondrial genes underlying mitochondrial disease. These cell lines are being differentiated in 2D- and 3D-culture to cardiac and neural lineages and characterised by a range of metabolic, proteomic and physiological analyses to characterise pathogenic mechanisms. This will be followed by studies of a range of drug treatments seeking to develop personalised treatment approaches for patients with these disorders.