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Details

Role Theme Director/Chair in Genomic Medicine
Research area Genomic Medicine

Contact

Available for student supervision
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 focus of clinical practice being in the diagnosis and management of children with inborn errors of metabolism for over three decades. He has an active laboratory-based Rett syndrome research program, as well as in genetic metabolic disorders, particularly 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 2016 he joined the Murdoch Children's Research Institute and established the Neurodevelopmental Genomics Research Group. At this time he also took up the inaugural Chair in Genomic Medicine at the University of Melbourne. The following year he and his long term collaborator Professor David Thorburn and decided to merge their research groups, and they now co-lead the Brain and Mitochondrial Research Group at the MCRI. in 2017 John became the Director of the MCRI's Genetics Research Theme.

John is a former Past President of the Human Genetics Society of Australasia (2005 – 2007). 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.
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 focus of clinical practice being in the diagnosis and management of children with...
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 focus of clinical practice being in the diagnosis and management of children with inborn errors of metabolism for over three decades. He has an active laboratory-based Rett syndrome research program, as well as in genetic metabolic disorders, particularly 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 2016 he joined the Murdoch Children's Research Institute and established the Neurodevelopmental Genomics Research Group. At this time he also took up the inaugural Chair in Genomic Medicine at the University of Melbourne. The following year he and his long term collaborator Professor David Thorburn and decided to merge their research groups, and they now co-lead the Brain and Mitochondrial Research Group at the MCRI. in 2017 John became the Director of the MCRI's Genetics Research Theme.

John is a former Past President of the Human Genetics Society of Australasia (2005 – 2007). 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.

Top Publications

  • White, SL, Thorburn, DR, Christodoulou, J, Dahl, HH. Novel Mitochondrial DNA Variant That May Give a False Positive Diagnosis for the T8993C Mutation.. Mol Diagn 3(2) : 113 -117 1998
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  • Williams, AJ, Coakley, J, Christodoulou, J. Automated analysis of mitochondrial enzymes in cultured skin fibroblasts.. Anal Biochem 259(2) : 176 -180 1998
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  • Christodoulou, J, Danks, DM, Sarkar, B, Baerlocher, KE, Casey, R, Horn, N, Tümer, Z, Clarke, JT. Early treatment of Menkes disease with parenteral copper-histidine: long-term follow-up of four treated patients.. Am J Med Genet 76(2) : 154 -164 1998
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  • Ellaway, C, North, K, Arbuckle, S, Christodoulou, J. Complex I deficiency in association with structural abnormalities of the diaphragm and brain.. J Inherit Metab Dis 21(1) : 72 -73 1998
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  • Ellaway, C, Christodoulou, J, Kamath, R, Carpenter, K, Wilcken, B. The association of protein-losing enteropathy with cobalamin C defect.. J Inherit Metab Dis 21(1) : 17 -22 1998
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