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Clinical severity and X-chromosome inactivation

For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.

Feeding experiences and growth status in a Rett syndrome population

We set out to describe the feeding difficulties and nutrition of girls with Rett syndrome and to examine what factors may be influencing their nutrition.

Longitudinal hand function in Rett syndrome

Therefore, we used video data to examine changes in hand function over time. We also investigated what other factors might influence these changes.

Equipment to support physical activity

Discover a comprehensive guide on equipment designed to empower physical activity in children with Rett Syndrome, promoting their well-being and development.

News & Events

IASSIDD 15th World Congress

Our AussieRett team recently visited Melbourne, Australia for the IASSIDD 15th World Congress.

Perioperative Medicine

The vision of the Perioperative Medicine Team is to make discoveries that will improve children’s perioperative care and lead to global practice change.

Research

Safety evaluation of closed loop system during hypoglyaemic stimuli

The purpose of this study is to evaluate the safety of new system called the Medtronic MinimedTM 670G that has been designed for long term outpatient use.

Research

Centre for Advanced Cancer Genomics (CACG)

Current technologies to understand which genes are turned on or off only work on large amounts of biological samples. As a consequence all measurements we receive represent averages across multiple cell types present in the sample. The situation is comparable to studying the contents of a bowl of fr

Mitochondrial Medicine and Biology

Mitochondrial diseases are devastating disorders for which there are no cures or effective treatments. Our project will focus on the prevention of mitochondrial diseases and discovery of effective cures.