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Research Themes

The Kids has a range of specialised expertise, tools, platforms and technology to undertake cutting-edge science.

Research

Cultures of HRV-C for investigations of pathogenesis in children

Anthony Belinda Ingrid Kicic Hales Laing BSc (Hons) PhD BSc (Hons) PhD BSc PhD Rothwell Family Fellow; Head, Airway Epithelial Research Senior

Research

Single-cell data combined with phenotypes improves variant interpretation

Whole genome sequencing offers significant potential to improve the diagnosis and treatment of rare diseases by enabling the identification of thousands of rare, potentially pathogenic variants. Existing variant prioritisation tools can be complemented by approaches that incorporate phenotype specificity and provide contextual biological information, such as tissue or cell-type specificity.

Research nurses, officers and assistants

Read about the research nurses and assistants at the Children's Diabetes Centre.

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.

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.