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  Neil Dad to five biological children and five long-term foster kids. Project community member, trial participant, advocate.           Of my desire

MECP2 duplication syndrome is a rare disorder neurodevelopmental disorder that, unlike Rett syndrome, mostly affects boys.

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.

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

Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.

We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.

Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.

News & Events

Research that screens novel genetic variants identified in disease will be fast-tracked by a funding boost, offering new hope of an early diagnosis for families of children with a rare or undiagnosed genetic disease.

News & Events

The Australian Government has appointed the National Health and Medical Research Council (NHMRC) Council for 2024 to 2027.