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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.

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.

Toxicity of different biodiesel exhausts in primary human airway epithelial cells grown at air-liquid interface

Biodiesel is created through the transesterification of fats/oils and its usage is increasing worldwide as global warming concerns increase. Biodiesel fuel properties change depending on the feedstock used to create it.

In Vitro primary human airway epithelial whole exhaust exposure

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.

Fuel feedstock determines biodiesel exhaust toxicity in a human airway epithelial cell exposure model

Biodiesel is promoted as a sustainable replacement for commercial diesel. Biodiesel fuel and exhaust properties change depending on the base feedstock oil/fat used during creation. The aims of this study were, for the first time, to compare the exhaust exposure health impacts of a wide range of biodiesels made from different feedstocks and relate these effects with the corresponding exhaust characteristics.

The development and refinement of a sensitive bedside test to continually measure the severity of BPD and lung development in preterm infants

Graham Jane Shannon Hall Pillow Simpson BAppSci PhD CRFS FANZSRS FThorSoc FERS BMedSci (Dist) MBBS, PhD (Dist) FRACP BMedSci (hons), PhD Honorary

Western Australia Paediatric Bronchiectasis Cohort

Bronchiectasis is a chronic lung disease that impairs quality of life and reduces life expectancy.

Innovation and commercialisation

We identify, develop and commercialise the technologies and innovations developed by our scientists and clinicians.

New risk factor identified to help predict the long-term lung health of young adults born very preterm

A study which set out to determine ways to predict the long-term lung health of young adults born very preterm has shown that a childhood history of respiratory hospital admission should be a key consideration in the management of preterm children and adults.

Pulmonary Gas Exchange Improves over the First Year in Preterm Infants with and without Bronchopulmonary Dysplasia

Right shift of the peripheral oxyhaemoglobin saturation (SpO2) versus inspired oxygen pressure (PIO2) curve is a sensitive marker of pulmonary gas exchange. The aim of this study was to assess the impact of prematurity and bronchopulmonary dysplasia (BPD) on gas exchange and right-to-left shunt in the neonatal period, and its evolution over the first year of life.