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Research

Gene Expression Analyses of the Spatio-Temporal Relationships of Human Medulloblastoma Subgroups during Early Human Neurogenesis

Medulloblastoma is the most common form of malignant paediatric brain tumour and is the leading cause of childhood cancer related mortality.

Research

Molecular tools for differentiation of non-typeable Haemophilus influenzae from Haemophilus haemolyticus

The molecular approaches that have been developed for differentiation of NTHi from H. haemolyticus, with the advantages and disadvantages of each target

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.

Linking MECP2 and pain sensitivity

We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.