By Prof Desiree Silva, Director of Research, Joondalup
Childhood asthma accounts for 43% of asthma hospitalisations and remains the leading cause of total disease burden in children aged between one and nine years.
An estimated $1.192 billion was spent on the treatment and management of asthma in 2022 and 2023. But what if we could pinpoint the children who are on the genetic pathway to develop asthma, before the wheeze and hospital visits, and intervene early enough to change that trajectory?
This is the ambitious goal of AERIAL, a sub-project within ORIGINS, Australia’s largest longitudinal birth cohort study of its kind.
AERIAL is investigating one of the most compelling theories in asthma research: that there are gene signature patterns associated with the development of wheeze and asthma later in childhood.
The hope is to identify these patterns, alert parents that their child is on a pathway to developing asthma, and provide an interventional treatment plan to halt its progression, ultimately reducing asthma diagnoses.
Hidden clues in airways
The focus of this study to date has centred around epithelial cells, which line the airways in the nose and lungs. When working correctly, these cells act as a tight, strong, and efficient barrier to protect the lungs from toxins.
However, in children with asthma, epithelial cells cannot form a tight barrier and behave differently to viral infections, making the lungs more vulnerable.
AERIAL recruited 460 mothers who birthed at Joondalup Health Campus, where a nasal swab was taken from their newborns at birth, alongside other samples like the placenta, meconium and colostrum, which make up over 400,000 samples in the ORIGINS Biobank.
During the first year of life, AERIAL participants were asked to use a mobile app to record their baby’s temperature and symptoms associated with viral infections, like a runny nose or cough.
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If required, parents would take a nose swab from their child to identify the type of infection, to determine the number and type of viral infections, and how this may leave a ‘fingerprint’ on the epithelial cell gene signatures.
Birth to early childhood
Alongside continued nasal swabs, children aged three to seven undergo a lung function test using oscillometry rather than spirometry, which typically requires strong forceful breathing alongside specific timing instructions that can be difficult for small children.
Oscillometry is a simple gentle test which asks the child to breathe normally into a mouthpiece for around 30 seconds. It has been shown to be both feasible and effective in detecting poor lung health in children.
By assessing lung health through oscillometry, we can begin to correlate the results with the unique genetic signatures found in their epithelial cells, to see if there are any indicators in the children who have developed, or are on track, to develop asthma.
Our ultimate goal is to develop a simple RAT like swab test that could flag children at higher risk of developing asthma.
With early identification, families could be provided with an interventional action plan outlining proactive steps to reduce asthma risk as the child grows.
This might include staying up to date with vaccinations, limiting exposure to respiratory infections through adapting daycare routines, initiating timely antibiotic treatment, and potentially even using targeted preventative therapies developed for children on the pathway to asthma.
Early identification of at-risk children could reduce the rate of lung damage in children and improve lifelong respiratory health outcomes, as well as lighten the physical, mental and financial strain on families with children living with the condition.
Exploring asthma origins
It is hoped that the sub-project can be further expanded to begin analysing participating mother’s amniotic membranes to see if they share the same genetic signature as their child’s epithelial cells.
This would indicate that exposures during pregnancy may have a ‘fingerprint’ that could lead to a child developing asthma in their early years.
If we can confirm asthma’s genesis is in the antenatal period and can pin down the specific exposure risks, the implication for public health campaigning and advice to pregnant women and their partners could be enormously significant.
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For the children participating in the AERIAL study, this isn’t just research, this is a potential turning point in their health journey, particularly if they receive an asthma diagnosis.
For researchers, clinicians, and families around the world, it’s a glimpse into a future where asthma could be identified and tackled before it even starts.
Author competing interest – the author is involved with the AERIAL research
Key messages
- AERIAL is investigating whether there are gene signature patterns associated with the development of wheeze and asthma later in childhood
- There are significant implications for public health and awareness campaigns if asthma’s genesis is in the antenatal period is confirmed
- If at-risk children can be identified earlier, we can work to drastically reduce the rate of lung damage in children and improve respiratory health outcomes during their lifetime.
ED: ORIGINS is a collaboration between Joondalup Health Campus and The Kids Research Institute Australia. AERIAL is one of 60 sub-projects and is run in collaboration with the Wal-yan Respiratory Research Centre.
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