About Professor John Christodoulou

John's research focus is on genetic disorders which affect brain development and function such as Rett syndrome, phenylketonuria and mitochondrial respiratory chain disorders, with a primary objective being to better understand the biology of these and related disorders in the hope of developing targeted therapies.

John Christodoulou is a senior Australian human geneticist based at the Childrens Hospital at Westmead, and has particular expertise in the diagnosis and management of individuals with inborn errors of metabolism.

John Christodoulou is recognised for his contributions to the field of human genetics:

  • member of the Executive Committee of the Genetic Services Advisory Committee, which advises the NSW Dept of Health on policies for the delivery of genetic services;
  • previous President of NSW Branch of the Human Genetics Society of Australasia (HGSA) and immediate Past President of the National Executive of the HGSA;
  • current President of the National Executive of the HGSA;
  • inaugural chair of the Health Delivery, Technical and Research Working Group of the newly formed Human Genetics Advisory Committee of the NHMRC;
  • member of the Scientific Advisory Board of the Cyprus Institute for Neurology & Genetics;
  • Editorial Board member of the Journal of Inherited Metabolic Disease.
He also plays a significant role in teaching and education, giving at least 20 lectures a year to various medical and allied health groups, as well as to lay organisations. In addition, he plays a significant mentoring role with postgraduate research students at the University of Sydney. He personally has successfully supervised over a dozen postgraduate research and honours students. In addition, in his capacity as the Chair of the Combined Board of Postgraduate Studies in Dentistry, Medicine and Pharmacy, and as the Associate Dean (Postgraduate Studies) in the Faulty of Medicine, he is responsible for the oversight of over 900 postgraduate research students. In recognition of his supervisory skills and contributions to the University of Sydney, in 2004 he was awarded the University of Sydney Vice-Chancellor’s Award for Research Supervision Excellence, one of only two such awards in that year.

Selected publications

For a comprehensive list of Professor Christodoulou's publicatons, please visit his Sydney Medical School profile page.