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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.

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.

Our vision is to increase awareness and improve outcomes for children with movement disorders and other neurodevelopmental conditions impacting on motor function.

We aim to ensure that high quality outcome measures are available to evaluate treatments and services for children with disability rigorously. We aim to translate our research into resources to support families, carers and clinicians.

The Sibling Project focuses on the wellbeing, relationships and needs of children, adolescents and emerging adults who have a sibling with a developmental disability.

Developmental and epileptic encephalopathy (DEE) conditions are rare, and most have a genetic cause.

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.