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MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
The airway epithelium is the primary structural and functional airway barrier and orchestrates innate immunity. Some children may have underlying epithelial vulnerabilities that contribute to the pathogenesis of acute wheeze and asthma.
The burden of bronchiectasis is disproportionately high in Aboriginal adults, with early mortality. Bronchiectasis precursors, that is, protracted bacterial bronchitis and chronic suppurative lung disease, often commence in early childhood.
Graham Kathryn Rachel Alana Hall Ramsey Foong Harper BAppSci PhD CRFS FANZSRS FThorSoc FERS BSc (Hons), PhD BSc (hons), PhD, MBiostat BSc (hons)
Research question: Are asthma and allergies more common in adolescents conceived with assisted reproductive technologies (ART) compared with adolescents conceived without?
Exhaled breath condensate (EBC) collection is a non-invasive, safe method for measurement of biomarkers in patients with lung disease. Other methods of obtaining samples from the lungs, such as bronchoalveolar lavage, are invasive and require anaesthesia/sedation in neonates and infants. EBC is particularly appealing for assessing biomarkers in preterm-born infants, a population at risk of ongoing lung disease.
Although preterm birth is associated with later deficits in lung function, there is a paucity of information on geographical differences and whether improvements occur over time, especially after surfactant was introduced.
The Foundations of Lung Disease Team is focused on improving the diagnosis, treatment, and lifelong care of childhood lung disease.
We’ve heard from families that trustworthy information about preterm-associated lung disease is difficult to find. In response, we’ve created resources to empower families with the knowledge they need to manage these challenges.
Senior Research Fellow