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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.

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.

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. 

Anthony Belinda Ingrid Kicic Hales Laing BSc (Hons) PhD BSc (Hons) PhD BSc PhD Rothwell Family Fellow; Head, Airway Epithelial Research Senior

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

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

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

The study of small airway diseases such as post-transplant bronchiolitis obliterans syndrome (BOS) is hampered by the difficulty in assessing peripheral airway

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.

The method outlined in this article is a customization of the whole exhaust exposure method generated by Mullins et al. (2016) using reprogrammed primary human airway epithelial cells as described by Martinovich et al. (2017). It has been used successfully to generate recently published data (Landwehr et al. 2021). The goal was to generate an exhaust exposure model where exhaust is collected from a modern engine, real-world exhaust concentrations are used and relevant tissues exposed to assess the effects of multiple biodiesel exposures.