David Thorburn Australian Diabetes Society and the Australian Diabetes Educators Association Annual Scientific Meeting 2014

David Thorburn

David Thorburn leads the Genetic Disorders Research Theme and Mitochondrial Research Group at Murdoch Childrens Research Institute and is an Honorary Professorial Fellow in the University of Melbourne Department of Paediatrics. He is a Fellow of the Human Genetics Society of Australasia and the Faculty of Science of the Royal College of Pathologists of Australasia. David did his PhD on erythrocyte metabolism, a postdoc on reticulocyte maturation and then decided he preferred to work instead on cells that looked after their mitochondria better than the erythroid lineage. His research focuses on inherited disorders of mitochondrial energy generation, which comprise more than 150 monogenic disorders. His laboratory has acted as the Australasian referral centre for children suspected of mitochondrial disease for over 2 decades and has diagnosed more than 500 patients. His research contributions include translating knowledge of mitochondrial DNA genetics into reproductive options for families, defining diagnostic criteria & epidemiology and improving diagnosis & discovery of novel “disease” genes through Next Generation DNA sequencing. This has led to the identification of 10 novel disease genes in the last 4 years together with studies aimed at understanding the pathophysiology of these disorders in cell and animal models

Abstracts this author is presenting: