Professor John Christodoulou, Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, and Head, Neurodevelopmental Genomics Research Group, and Director of the Genetics Research Theme, Murdoch Childrens Research Institute, Melbourne, VIC
There is little doubt that the advent of genomic testing technologies into “prime time” will have far reaching implications for the future delivery of health care. For rare diseases, early introduction of genomic testing has to potential to drastically reduce the duration of the “diagnostic odyssey”, allowing the prospect of more precise and targeted therapy, and for restoration of reproductive confidence in families.
In this presentation he will give an overview of where and how genomic technologies could/should be implemented into the Australian Healthcare system, with a particular focus on rare genetic disorders, giving specific examples along the way. In addition, I will speculate on the potential that “multi-omic” technologies may have to offer into the future.
Professor John Christodoulou is currently the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, the Head of the Neurodevelopmental Genomics Research Group, and Director of the Genetics Research Theme, at the Murdoch Childrens Research Institute in Melbourne, Australia. He graduated from the University of Sydney, and has formal qualifications in paediatrics, medical genetics and genetic pathology. He undertook his formal genetic training at the Murdoch Research Institute in Melbourne, Australia (1986 – 1990), and had further postdoctoral training in genetic metabolic disorders at the Hospital for Sick Children in Toronto, Canada (1990 – 1992). He returned to Sydney and for 18 years was the Director of the Western Sydney Genetics Program at the Children’s Hospital at Westmead, one of the largest fully integrated clinical and laboratory diagnostic genetic services in Australia.
He has an active laboratory-based Rett syndrome and mitochondrial disorders research program, and has a major research interest in the application of next generation sequencing (NGS) technologies for disease gene discovery in rare Mendelian disorders, and is the co-lead of the Australian Genomics Health Alliance, whose focus is to bring NGS diagnostics into mainstream clinical practice in Australia.
John is a former Past President (2005-2007) of the Human Genetics Society of Australasia, has served on the NHMRC Principal Committee, the Human Genetics Advisory Committee since 2009. In 2010 he became a Member of the General Division of the Order of Australia (AM) for service to human genetics, particularly the metabolic disorders of children, as a researcher and clinician.