John Christodoulou is clinical geneticist working in the management of children with inborn errors of metabolism for over 25 years.  He has a longstanding interest in Rett syndrome (RTT), with a potential new therapy and the discovery the second gene associated with RTT as notable achievements.  More recently, using next generation sequencing (NGS) he identified a number of new disease genes which directly led to specific therapies.  As an executive team member of the Australian Genomics Health Alliance, he will oversee the generation of evidence to convince policymakers that NGS should be equitably introduced nationally into mainstream medical practice.