Rett Syndrome Association of Australia | Research in Australia

Research in Australia


Rett syndrome research has been conducted at a small number of Australian institutions since the early 1990s. Some studies have been ongoing, others short term. The areas of study vary and include epidemiology, behavior, health issues, treatment, genetics and communication. Sources of funding for such have included the Australian Government’s National Health and Medical Research Council (NHMRC), the former Rett Syndrome Australian Research Fund, the Rett Syndrome Association of Australia, families and others.


Australian Rett Syndrome Study

The Australian Rett Syndrome Study was set up in Perth at the Telethon Institute for Child Health Research (now known as the Telethon Kids Institute) in 1993. Past and current research includes:

  • Collection/analysis of data for Rett syndrome individuals born in Australia from 1976
  • Availability of health services for Rett syndrome families and their usage of such
  • Management guidelines for scoliosis
  • Gastrointestinal issues
  • Functional abilities
  • Hand movements
  •        Bone health
  •        Life expectancy
  •        Family trees
  •        Seizures
  •        Diagnosis
  •        Health and well-being of families

Published articles on the syndrome to which the Study has been a contributor, now exceed 100.  Information about the Australian Rett Syndrome Study and other work conducted by the team can be obtained by clicking on the following link


Universities of Queensland and Sydney
During the early and mid 1990s, a number of studies were conducted by the Dept of Speech Pathology and Audiology at the University of Queensland into the communication abilities of a number of Rett syndrome females, as too did the Dept of Education at the University of Sydney.


Kids Research, Sydney Children’s Hospitals Network
Rett syndrome has been an active area of research at The Children’s Hospital at Westmead since 1995. The research team are based within Kids Research, the research arm of Sydney Children’s Hospitals Network, where they are focused on understanding the genetics of the disease.

With genetic technology evolving so rapidly, the research team, led by Dr Wendy Gold, are working toward developing and applying advanced gene-editing technologies for the treatment and potential life-long cure of Rett syndrome. For more information, please click on this link

Older studies conducted at Westmead included the treatment of Rett syndrome patients with levo-carnitine and an evaluation of the sleep problems associated with the disorder.


The Howard Florey Institute, Melbourne (Now known as the Florey Neuroscience Institutes)
A one off study at the Institute carried out in 2008 found that stimulating the environment of Rett syndrome mice led to improvements in their brain function, behaviour and life expectancy. These findings suggest that incorporating environmental therapy into the treatment regime of Rett syndrome patients may be a valuable way of increasing their functionality and quality of life.


Mater Medical Research Institute, Brisbane (MMRI)
Associate Professor Geoff Faulkner heads the Genome Plasticity & Disease Laboratory at MMRI. His team is presently working to better define the genetic causes and consequences of Rett syndrome in mice models and using stem cells generated from skin cells donated by Rett syndrome patients, with the aim of ascertaining the full spectrum of genetic mutations that occur before and after the onset of Rett symptoms. This type of research will likely be necessary to develop a cure for Rett syndrome but in the short term it will serve to better explain the neurological symptoms of the disease.