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Speech Pathology Week 2025 at CliniKids.

In this The Kids Research Institute Australia subsite, our Rett syndrome research team manages a national and international database of Rett syndrome.

Cystic fibrosis (CF) is the most common chronic, life-shortening genetic condition affecting young Australians. There is no cure but researchers are working to prevent the onset of lung disease.

The speed with which research projects on the coronavirus have been put together has consumer advocates concerned that a vital voice will be missing – that of the community.

Research Assistant

Since the discovery of MECP2 duplication syndrome (MDS) in 1999, efforts to characterise this disorder have been limited by a lack of large datasets, with small case series often favouring the reporting of certain conditions over others. This study is the largest to date, featuring 134 males and 20 females, ascertained from the international MECP2 Duplication Database (MDBase).

Our study suggests that vagus nerve stimulation is a generally safe and effective adjunct treatment for CDKL5-associated epilepsy

There remains uncertainty about the effect of exercise on oxidative stress in people with Down syndrome

Providing new insights into the interpretation of genetic variants in a rare neurologi disorder, in the contexts of population sequencing data.

Although abilities were markedly impaired for the majority with the CDKL5 disorder, some females and a few males had better functional abilities