photo of

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

  • Balasubramaniam, S, Riley, LG, Bratkovic, D, Ketteridge, D, Manton, N, Cowley, MJ, Gayevskiy, V, Roscioli, T, Mohamed, M, Gardeitchik, T, et al. Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.. J Inherit Metab Dis 40(5) : 745 -747 2017
    view publication
  • Lake, NJ, Webb, BD, Stroud, DA, Richman, TR, Ruzzenente, B, Compton, AG, Mountford, HS, Pulman, J, Zangarelli, C, Rio, M, et al. Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.. Am J Hum Genet 101(2) : 239 -254 2017
    view publication
  • Gold, WA, Sobreira, N, Wiame, E, Marbaix, A, Van Schaftingen, E, Franzka, P, Riley, LG, Worgan, L, Hübner, CA, Christodoulou, J, et al. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.. Am J Med Genet A 173(8) : 2246 -2250 2017
    view publication
  • Krishnaraj, R, Ho, G, Christodoulou, J. RettBASE: Rett syndrome database update.. Hum Mutat 38(8) : 922 -931 2017
    view publication
  • Zurynski, Y, Deverell, M, Dalkeith, T, Johnson, S, Christodoulou, J, Leonard, H, Elliott, EJ, APSU Rare Diseases Impacts on Families Study group. Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays.. Orphanet J Rare Dis 12(1) : 68 2017
    view publication