Profiles

Professor John Christodoulou

 - Chief Investigator

Research focus: Diagnosis and management of children with inborn errors of metabolism


John Christodoulou is 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. 

His research interests include Rett syndrome and mitochondrial disorders, and he has a major research interest in the application of next generation sequencing (NGS) technologies in rare genetic disorders.  He is the co-lead of the Australian Genomics Health Alliance, focusing on bringing NGS diagnostics into mainstream clinical practice in Australia. 

John is a former Past President of the Human Genetics Society of Australasia. In 2010 he became a Member of the General Division of the Order of Australia (AM) and in 2017 became a Fellow of the Australian Academy of Health & Medical Sciences.