photo of Prof John Christodoulou

Prof John Christodoulou

Prof John Christodoulou

Details

Role Theme Director/Chair in Genomic Medicine
Research area Genetics

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, 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 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, 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 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

  • Tudini, E, Andrews, J, Lawrence, DM, King-Smith, SL, Baker, N, Baxter, L, Beilby, J, Bennetts, B, Beshay, V, Black, M, et al. Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation. American Journal of Human Genetics 109(11) : 1960 -1973 2022
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  • Vogel, GF, Mozer-Glassberg, Y, Landau, YE, Schlieben, LD, Prokisch, H, Feichtinger, RG, Mayr, JA, Brennenstuhl, H, Schröter, J, Pechlaner, A, et al. Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genetics in Medicine 2022
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  • Temple, SEL, Ho, G, Bennetts, B, Boggs, K, Vidic, N, Mowat, D, Christodoulou, J, Schultz, A, Gayagay, T, Roscioli, T, et al. The role of exome sequencing in childhood interstitial or diffuse lung disease. Orphanet Journal of Rare Diseases 17(1) : 350 2022
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  • Long, JC, Best, S, Easpaig, BNG, Hatem, S, Fehlberg, Z, Christodoulou, J, Braithwaite, J. Needs of people with rare diseases that can be supported by electronic resources: a scoping review. BMJ Open 12(9) : e060394 2022
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  • Rius, R, Bennett, NK, Bhattacharya, K, Riley, LG, Yüksel, Z, Formosa, LE, Compton, AG, Dale, RC, Cowley, MJ, Gayevskiy, V, et al. Biallelic pathogenic variants in COX11 are associated with an infantile‐onset mitochondrial encephalopathy. Human Mutation 2022
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