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
Christodoulou, J.
Trimethylaminuria: an under-recognised and socially debilitating metabolic disorder..
J Paediatr Child Health
48(3)
:
E153 -E155
2012
view publication
Huppke, P, Brendel, C, Kalscheuer, V, Korenke, GC, Marquardt, I, Freisinger, P, Christodoulou, J, Hillebrand, M, Pitelet, G, Wilson, C, et al.
Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin.
American Journal of Human Genetics
90(2)
:
378
2012
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Moran, R, Kuilenburg, ABP, Duley, J, Nabuurs, SB, Retno-Fitri, A, Christodoulou, J, Roelofsen, J, Yntema, HG, Friedman, NR, van Bokhoven, H, et al.
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I..
Am J Med Genet A
158A(2)
:
455 -460
2012
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Williamson, SL, Giudici, L, Kilstrup-Nielsen, C, Gold, W, Pelka, GJ, Tam, PPL, Grimm, A, Prodi, D, Landsberger, N, Christodoulou, J.
A novel transcript of cyclin-dependent kinase-like 5 (CDKL5) has an alternative C-terminus and is the predominant transcript in brain..
Hum Genet
131(2)
:
187 -200
2012
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Calvo, SE, Compton, AG, Hershman, SG, Lim, SC, Lieber, DS, Tucker, EJ, Laskowski, A, Garone, C, Liu, S, Jaffe, DB, et al.
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing..
Sci Transl Med
4(118)
:
118ra10
2012
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