Laboratory team

David is co-Group Leader of the MCRI Brain and Mitochondrial Research Group and leads the VCGS Mitochondrial Laboratory. He is a NHMRC Principal Research Fellow and a Fellow of the Human Genetics Society of Australasia, the RCPA Faculty of Science and the Australian Academy of Health & Medical Sciences. David’s group has defined many of the methods used internationally for enzyme diagnosis of mitochondrial respiratory chain defects as well as the most widely used diagnostic criteria. His group has diagnosed over 700 children with mitochondrial disorders. Through diagnostic and research studies, they have identified causative mutations in over 500 of these patients in a total of over 85 different genes. David has been a leader in the application of massively parallel sequencing to diagnosis of complex groups of inherited diseases and these studies have identified more than 20 novel disease genes.