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Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Rett syndrome (RTT) is an X linked neuro-developmental disorder affecting mostly girls. Mutations in the coding region of MECP2 are found in 80% of classic...

Carol's story: losing a parent to RHD

After being diagnosed with rheumatic heart disease at ten, Elizabeth had to leave country and her family for a large chunk of her childhood so she could be treated in Adelaide.

Margie's story: Parent to a child with ARF

When Liana complained of a sore foot and showed signs of a fever, her mum Margie rushed her to hospital. An X-ray of her foot revealed no obvious injury, so she was sent home and advised to take painkillers.

Advancing CNS tumor diagnostics with expanded DNA methylation-based classification

DNA methylation-based classification is now central to contemporary neuro-oncology, as highlighted by the World Health Organization classification of central nervous system tumors. This expansion is a result of newly identified tumor types discovered through our large online repository and global collaborations, underscoring CNS tumor heterogeneity.

Higher Promoter Methylation of the Ubiquitin-Associated and SH3 Domain Containing A (UBASH3A) Gene Is Associated With T-Lymphocyte Ontogeny and Reduced Susceptibility to Early-Onset Sepsis

We investigated the genetic and epigenetic regulation of the UBASH3A gene and its association with early-onset sepsis. Using matched whole blood DNA methylation, gene expression, genotypes, and immune cell counts from the EPIC-HIPC newborn cohort, we report that promoter methylation was negatively correlated with ontogenetic changes in UBASH3A gene expression and circulating CD3+ T-cell numbers. 

Prospective characterisation of SARS-CoV-2 infections among children presenting to tertiary paediatric hospitals across Australia in 2020: A national cohort study

To present Australia-wide data on paediatric COVID-19 and multisystem inflammatory syndromes to inform health service provision and vaccination prioritisation. Design Prospective, multicentre cohort study. Setting Eight tertiary paediatric hospitals across six Australian states and territories in an established research surveillance network - Paediatric Active Enhanced Disease (PAEDS).

Chronobiology

The Chronobiology team works to understand the factors that contribute to poor lung and heart function in newborn infants and find ways to prevent heart and lung disease.

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.

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.

Impact of scoliosis surgery on daily living

We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.