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The role of exome sequencing in childhood interstitial or diffuse lung disease

Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality.

Asbestos-related disease

Inhalation of airborne asbestos fibres causes several diseases. These include asbestosis, lung cancer, malignant mesothelioma as well as pleural effusion...

Developing clinical predictors of disease progression in children with neuromuscular disorders to prevent future respiratory failure

Graham Hall BAppSci PhD CRFS FANZSRS FThorSoc FERS Honorary Research Associate Honorary Research Associate Professor Graham Hall is an

Characterisation of lung function trajectories and associated early-life predictors in an Australian birth cohort study

There is growing evidence that lung function in early-life predicts later lung function. Adverse events over the lifespan might influence an individual’s lung function trajectory, resulting in poor respiratory health. The aim of this study is to identify early-life risk factors and their impact on lung function trajectories to prevent long-term lung impairments.

Exhaled breath temperature in healthy children is influenced by room temperature and lung volume

Exhaled breath temperature (EBT) has been proposed for the non-invasive assessment of airway inflammation

Lung function and exhaled nitric oxide in healthy unsedated African infants

Population-appropriate lung function reference data are essential to accurately identify respiratory disease and measure response to interventions.

The global lung function initiative (GLI) network: Bringing the world’s respiratory reference values together

The Global Lung Function Initiative (GLI) Network has become the largest resource for reference values for routine lung function testing ever assembled.

Epigenome-Wide Association Studies of Chronic Obstructive Pulmonary Disease and Lung Function: A Systematic Review

Chronic obstructive pulmonary disease (COPD) results from gene-environment interactions over the lifetime. These interactions are captured by epigenetic changes, such as DNA methylation.  

SLC6A14 Impacts Cystic Fibrosis Lung Disease Severity via mTOR and Epithelial Repair Modulation

Cystic fibrosis (CF), due to pathogenic variants in CFTR gene, is associated with chronic infection/inflammation responsible for airway epithelium alteration and lung function decline. Modifier genes induce phenotype variability between people with CF (pwCF) carrying the same CFTR variants. Among these, the gene encoding for the amino acid transporter SLC6A14 has been associated with lung disease severity and age of primary airway infection by the bacteria Pseudomonas aeruginosa.

Exacerbation of chronic cigarette-smoke induced lung disease by rhinovirus in mice

A significant proportion of chronic obstructive pulmonary disease exacerbations are strongly associated with rhinovirus infection (HRV). In this study, we combined long-term cigarette smoke exposure with HRV infection in a mouse model.