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The Kids Research Institute Australia researchers set out on a worldwide search to find out all they could about Rett syndrome, establishing databases and creating awareness.
The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome
A Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised
The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.
One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.
Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.
We also wanted to find out whether any particular behaviours were associated with any specific mutation types.
Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd
This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.
Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.