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Ear Portal: An ENT and Audiology referral portal for improving access to ear health services for children using telehealth

Chris Deborah Peter Tanisha Greta Karina Brennan-Jones Lehmann Richmond Cayley Bernabei Tao PhD AO, MBBS, MSc MBBS MRCP(UK) FRACP BBiomed (Hons) BSc

Research

Economic Evaluation of The Luminos Project: Early intervention residential centre for young people experiencing thoughts of suicide

The Luminos Project has been co-designed with global experts in youth suicide support, mental health services, and research, alongside input from young people with lived experience, ensuring it meets their needs effectively.

AussieRett

The Australian Rett Syndrome Study is based at The Kids Research Institute Australia located in Subiaco, Western Australia. This study was established in 1993.

InterRett

Funded by the International Rett Syndrome Foundation, this international online database examines the clinical features and genetic characteristics.

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.