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News & Events

Event: An Evening With Cystic Fibrosis Scientists

Join us for an annual research update from WA cystic fibrosis researchers.Find out the latest research findings in Cystic Fibrosis.

News & Events

8 tips to raise happy kids

All parents want their children to be happy. But in our rapidly changing modern world what does that actually mean? Prof. Stephen Zubrick provides his top tips.

News & Events

1 in 3 young people in detention has alcohol related brain damage

About a third of young people in youth detention in Western Australia have Fetal Alcohol Spectrum Disorder (FASD), data has found.

News & Events

Video: One brave little girl's battle with Rett syndrome

Imagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.

News & Events

Video: Why you're wasting your money on bottled water

The Kids Research Institute Australia nutritionist Dr Roslyn Giglia says Australians are spending over $500 million a year on bottled water, when tap water is healthier.

The CDKL5 Disorder

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

Areas of research

With the help of clinicians and families who have children with Rett syndrome, our research aims to improve understanding of Rett syndrome.

Investigating genotype - phenotype relationships in Rett syndrome using an international database

This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.

Refining the phenotype of common mutations

Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.

Updating the profile of C-terminal MECP2 deletions

Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.