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Research

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.

Research

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.

Research

Clinical Predictors of Longitudinal Respiratory Exacerbation Outcomes in Young Hospitalised Children

Respiratory infection and wheezing illness are leading causes of hospitalisation in childhood, placing a significant burden on families and healthcare systems. However, reliably distinguishing children at risk of developing persistent disease from those likely to outgrow their symptoms remains a clinical challenge. Earlier identification would allow clinicians to focus care and resources on those most likely to benefit from long-term management, while reducing anxiety and uncertainty about the future for families.

Research

Interleukin-4 modulates type I interferon to augment antitumor immunity

Despite advances in immunotherapy, metastatic melanoma remains a considerable therapeutic challenge due to the complexity of the tumor microenvironment. Intratumoral type I interferon (IFN-I) has long been associated with improved clinical outcomes. However, several IFN-I subtypes can also paradoxically promote tumor growth in some contexts. 

Research

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).

Research

BEAT-CF: Bayesian Evidence-Adaptive Tool to optimise management of Cystic Fibrosis

An innovative response-adaptive approach to driving improvements in health outcomes, applied to cystic fibrosis.

Research

Innate inflammatory responses of pediatric cystic fibrosis airway epithelial cells: Effects of nonviral and viral stimulation

There is controversy regarding whether cystic fibrosis (CF) airway epithelial cells (AECs) are intrinsically proinflammatory.

Airway Epithelial Research

The Airway Epithelial Research Team is investigating the role of the epithelium in the development of airway diseases including asthma, cystic fibrosis and lung transplant rejection.

Research

Progress in Model Systems of Cystic Fibrosis Mucosal Inflammation to Understand Aberrant Neutrophil Activity

Here we examine the latest findings of neutrophils in pediatric CF lung disease and proposed mechanisms of their pathogenicity