Professor David Thorburn is the Theme Director of Genetics and Group Leader of Mitchondrial Research at the Murdoch Childrens Research Institute. His group is primarily involved in researching the genetic basis of mitochondrial energy generation disorders. His research contributions include improving diagnostic methods, translating knowledge about mitochondrial DNA genetics into practical reproductive options, defining diagnostic criteria and epidemiology, identifying novel “disease" genes and characterising mouse models of mitochondrial disease. His laboratory has acted as the national referral centre for the diagnosis of mitochondrial disease in children for over 20 years and diagnosed more than 500 children. Through studies in-house and with collaborators, his group has identified disease-causing mutations in over 280 of these 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. Professor Thorburn received his PhD in Biochemistry from the University of Sydney in 1987 before completing Fulbright and National Health and Medical Research Council CJ Martin Fellowships with Ernie Beutler at Scripps Clinic, La Jolla, California. He returned to Australia in 1990 and is currently an NHMRC Principal Research Fellow and a Fellow and past-President of the Human Genetics Society of Australasia. He is also a Founding Fellow and Principal Examiner in Genetics of the Faculty of Science of the Royal College of Pathologists of Australasia.

Prediatrics and Genetics