John Christodoulou

John Christodoulou

Murdoch Children's Research Institute and Department of Paediatrics, Sydney Medical School

Affiliated withSydney Medical School

Research Area

Biography

John Christodoulou is the Chair of Genomic Medicine, Department of Paediatrics, University of Melbourne, the Co-Leader of the Brain and Mitochondrial Research Group, and Director of the Genetics Research Theme, at the Murdoch Children’s 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.

JoVE Journal Publications

ArticleTotal : 1
Year
An Electrochemiluminescence-Based Assay for MeCP2 Protein Variants
Publication title

Cited by 2

2020

Other Publications

Article
Year
Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia.

The Journal of neuroscience : the official journal of the Society for Neuroscience| PubMed ID: 20631190

2010
Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder.

Journal of paediatrics and child health| PubMed ID: 21276117

2012
2012
2013
2013
2013
2013
2013
2014
2014
2015
2015
2016
2015
2016
2016
2016
Phenylketonuria: a review of current and future treatments.

Translational pediatrics| PubMed ID: 26835392

2015
2016
2017
2016
2016
2017
2017
RettBASE: Rett syndrome database update.

Human mutation| PubMed ID: 28544139

2017
2017
2017
Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

European journal of human genetics : EJHG| PubMed ID: 28905880

2017
2018
2017
2018
2017
2018
2018
2018
2018
2019
2019
Disorders of riboflavin metabolism.

Journal of inherited metabolic disease| PubMed ID: 30680745

2019
2019
2019
Biparental inheritance of mitochondrial DNA in humans is not a common phenomenon.

Genetics in medicine : official journal of the American College of Medical Genetics| PubMed ID: 31171843

2019
2019
2019
2019
2020
Homozygous splice-variants in human ARV1 cause GPI-anchor synthesis deficiency.

Molecular genetics and metabolism| PubMed ID: 32165008

2020
2020
Parental health spillover effects of paediatric rare genetic conditions.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation| PubMed ID: 32266555

2020
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.

Genetics in medicine : official journal of the American College of Medical Genetics| PubMed ID: 32313153

2020
2020