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Lung study helps history-making generation get a handle on their health

A lung function study carried out by Dr Shannon Simpson provided the most comprehensive follow-up of very pre-term children of any study so far carried out on the lung health of this vulnerable group.

Defective cell migration as a mechanism of dysregulated asthmatic airway repair

The findings from this study show that in children with asthma this protective barrier is different from children without asthma.

Improved diagnosis, treatment and prevention of recurrent tonsillitis

Strep A causes over 775 million infections each year world-wide, including over 615 million cases of tonsil infection (Strep throat).

Vulnerable from the first breath - epithelial dysfunction and respiratory outcomes in children

We have been studying the importance of the epithelial cells lining the airways in the nose and lungs.

A precision medicine approach to interpret a GATA4 genetic variant in a paediatric patient with congenital heart disease

Patients with congenital heart disease (CHD) are identified in 1% of live births. Improved surgical intervention means many patients now survive to adulthood, the corollary of which is increased mortality in the over-65-year-old congenital heart disease population. In the clinic, genetic sequencing increasingly identifies novel genetic variants in genes related to CHD.

A differentiated nasal epithelial cell model derived from children with acute wheeze and asthma

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.

What goes up must come down: dynamics of type 1 interferon signaling across the lifespan

Type 1 interferons (T1IFNs) are typically expressed in low concentrations under homeostatic conditions, but upon pathogenic insult or perturbation of the pathway, these critical immune signaling molecules can become either protectors from or drivers of pathology. While essential for initiating antiviral defense and modulating inflammation, dysregulation of T1IFN signaling can contribute to immunopathology, making it and its associated pathways prime targets for immune evasion and disruption by pathogens. 

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

Seven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.

Pediatric Bronchiectasis Action Management Plan to Improve Clinical Outcomes: A Randomized Controlled Trial

Managing bronchiectasis exacerbations is a priority for patients, parents, and caregivers of children with bronchiectasis. However, evidence-based strategies among the pediatric population remain limited.