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Novel findings in relation to genotype

Using information from the Australian Rett Syndrome study, we examined the frequency of a range of sleep issues and variation by agegroup or gene abnormalities.

We wanted to assess bone mineral content and bone mass density in girls and women in our Australian study, and whether specific factors had any influence.

Using information provided by the Rett study, we looked at relationships of early development, genetic characteristics and the development of scoliosis.

Rett syndrome is one of the 8,000 rare genetic diseases that collectively affect up to 10% of the population.

Anyone who engages in physical activity, regardless of how much they do, can achieve mental, physical and social health benefits, resulting in benefits to their quality of life.

News & Events

Following last year's World Rett Syndrome Congress held in New Orleans, the 3rd European Rett Syndrome Conference was held in the Netherlands over 3 days.

News & Events

Our own Dr Helen Leonard was recently featured on Today Tonight. MECP2 duplication syndrome, which more frequently affects boys, is one of the Rett syndrome...

Research

Oral liquid prednisolone medications have poor acceptance among paediatric patients due to ineffective masking of the bitterness taste of prednisolone. This study aimed to develop a child-friendly prednisolone tablet using a patented chewable chocolate-based delivery system previously applied successfully to mask the bitterness tastes of midazolam and tramadol.

Research

Base editing technologies enable programmable single-nucleotide changes in target DNA without double-stranded DNA breaks. Adenine base editors (ABEs) allow precise conversion of adenine to guanine. However, limited availability of optimized deaminases as well as their variable efficiencies across different target sequences can limit the ability of ABEs to achieve effective adenine editing.