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Research

The Human Phenotype Ontology was launched in 2008 to provide a comprehensive logical standard to describe and computationally analyze phenotypic abnormalities found in human disease. The HPO is now a worldwide standard for phenotype exchange. The HPO has grown steadily since its inception due to considerable contributions from clinical experts and researchers from a diverse range of disciplines. Here, we present recent major extensions of the HPO for neurology, nephrology, immunology, pulmonology, newborn screening, and other areas.

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Playgroups are widely used throughout the Australian community yet understanding of their efficacy is hindered by inconsistent playgroup definitions and practice principles. This study aimed to develop, implement and evaluate the feasibility of a manualised therapeutic playgroup for children with developmental delay and their families using a three step process.

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Worldwide, tuberculosis (TB) remains the leading cause of death from infectious diseases. Africa is the second most-affected region, accounting for a quarter of the global TB burden, but there is limited evidence whether there is subnational variation of TB prevalence across the continent. Therefore, this study aimed to estimate sub-national and local TB prevalence across Africa.

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Nasal epithelial cells from young adults with a history of very preterm birth show delayed closure following scratch-wounding. Repair correlated with lung function, suggesting epithelial barrier integrity may play a role in preterm-associated lung disease.

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This study investigates various common medical conditions affecting Australian children aged 4–14 years and the impact of prenatal and early-life conditions on these health conditions using a large national data set with 15 years of follow-up.

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Respiratory tract infections (RTIs) drive lung function decline in children with cystic fibrosis (CF). While the respiratory microbiota is clearly associated with RTI pathogenesis in infants without CF, data on infants with CF is scarce. We compared nasal microbiota development between infants with CF and controls and assessed associations between early-life nasal microbiota, RTIs, and antibiotic treatment in infants with CF. 

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Compromised neonatal intensive care unit neonates are at risk of acquiring late-onset infections (late-onset sepsis [LOS]). Neonates born with congenital anomalies could have an additional LOS risk. 

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Sex-specific developmental differences in brain structure have been documented in older children and adolescents, with females generally showing smaller overall brain volumes and earlier peak ages than males. However, sex differences in gray matter structural development in early childhood are less studied. We characterized sex-specific trajectories of gray matter volume development in children aged 2–8 years.  

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We are working with the leadership and staff at foster care agencies and community members to provide information about cultural connection, and cultural activity and resources for Aboriginal children living in non-Aboriginal care arrangements.

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Status epilepticus is associated with significant morbidity and mortality. While vaccine-proximate status epilepticus (VP-SE) has rarely been associated with cases of Dravet syndrome, it is not known whether VP-SE differs clinically from non-vaccine proximate status epilepticus (NVP-SE).