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John Christodoulou

Professor
Genetics
Murdoch Childrens Research Institute
Australia

Professor Genetics
Biography

John Christodoulou is a medical graduate of the University of Sydney, and has formal qualifications in paediatrics, medical genetics and genetic pathology, with his main current focus of clinical practice being in the diagnosis and management of children with inborn errors of metabolism. He has an active laboratory-based and clinical Rett syndrome research program, as well as in genetic metabolic disorders, including phenylketonuria (PKU) and the mitochondrial respiratory chain (energy production) disorders, and has a strong research interest in the application of next generation sequencing technologies for disease gene discovery in rare Mendelian disorders. He was the Director of the Western Sydney Genetics Program at the Children's Hospital at Westmead, and the Head of the Discipline of Genetic Medicine at Sydney University until December 2015. In January of this year took up the inaugural Chair of Genomic Medicine at the Murdoch Childrens Research Institute and the University of Melbourne.

Research Intrest

Human Genetics and Neurodevelopmental Genomics

List of Publications
Fehr S, Wilson M, Downs J, Williams S, Murgia A, Sartori S, Vecchi M, Ho G, Polli R, Psoni S, Bao X. The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy. European Journal of Human Genetics. 2013 Mar;21(3):266.
Gold WA, Lacina TA, Cantrill LC, Christodoulou J. MeCP2 deficiency is associated with reduced levels of tubulin acetylation and can be restored using HDAC6 inhibitors. Journal of Molecular Medicine. 2015 Jan 1;93(1):63-72.
Bjoraker KJ, Swanson MA, Coughlin CR, Christodoulou J, Tan ES, Fergeson M, Dyack S, Ahmad A, Friederich MW, Spector EB, Creadon-Swindell G. Neurodevelopmental outcome and treatment efficacy of benzoate and dextromethorphan in siblings with attenuated nonketotic hyperglycinemia. The Journal of pediatrics. 2016 Mar 31;170:234-9.
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