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This study investigated the nature and prevalence of atypical pain responses in Rett syndrome and their relationships with specific MECP2 mutations.

To assess whether lung volume and ventilation inhomogeneity in preterm infants at 15-18 months corrected age

Forced oscillation technique

Jennifer Peter Kent Richmond RN MBBS MRCP(UK) FRACP Clinical Research Manager Head, Vaccine Trials Group Jennifer.Kent@thekids.org.au Clinical

Hallmarks of cystic fibrosis (CF) airway disease include bronchiectasis, airway inflammation by infiltrating polymorphonuclear neutrophils (PMNs) and recurring infection.

This work is the first step to develop safe treatments for pregnant mums to protect against preterm delivery and low birth weight caused by maternal infections.

Your help could be crucial to our respiratory research

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. 

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes.

Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria from a systematic variant-to-gene mapping framework. These genes were enriched in 29 pathways. Individual variants showed heterogeneity across ancestries, age and smoking groups, and collectively as a genetic risk score showed strong association with COPD across ancestry groups.