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Research

Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modelling

SETBP1 Haploinsufficiency Disorder (SETBD) is characterised by mild to moderate intellectual disability, speech and language impairment, mild motor developmental delay, behavioural issues, hypotonia, mild facial dysmorphisms, and vision impairment. Despite a clear link between SETBP1 mutations and neurodevelopmental disorders the precise role of SETBP1 in neural development remains elusive.

Research

Delayed airway epithelial repair is correlated with airway obstruction in young adults born very preterm

Nasal epithelial cells from young adults with a history of very preterm birth show delayed closure following scratch-wounding. Repair correlated with lung function, suggesting epithelial barrier integrity may play a role in preterm-associated lung disease.

Research

Research priorities for preterm lung health research across the lifespan: a community priority setting partnership

It is essential to embed patient and public perspectives into every stage of the research journey, including setting the future research agenda. The substantial gaps in our understanding of prematurity-associated lung disease presented a timely opportunity to determine the community's research priorities.

Research

Comment on Karthikeyan et al. Concordance between In Vitro and In Vivo Relative Toxic Potencies of Diesel Exhaust Particles from Different Biodiesel Blends. Toxics 2024, 12, 290

Dr Katherine Alexander Landwehr Larcombe BSc(Hons) BScEnv (Hons) PhD Senior Research Officer Honorary Research Fellow Katherine.landwehr@thekids.org.au Research Officer & PhD Honorary Research Fellow Katherine is a Senior Research Officer with the

Research

Global Lung Function Initiative reference values for multiple breath washout indices

Multiple breath washout is a lung function test based on tidal breathing that assesses lung volume and ventilation distribution. The aim of this analysis was to use the Global Lung Function Initiative methodology to develop all-age reference equations for the multiple breath washout indices lung clearance index and functional residual capacity.