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Identifying SETBP1 haploinsufficiency molecular pathways to improve patient diagnosis using induced pluripotent stem cells and neural disease modellingSETBP1 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
Predictive gene expression signature diagnoses neonatal sepsis before clinical presentationNeonatal sepsis is a deadly disease with non-specific clinical signs, delaying diagnosis and treatment. There remains a need for early biomarkers to facilitate timely intervention. Our objective was to identify neonatal sepsis gene expression biomarkers that could predict sepsis at birth, prior to clinical presentation.
Research
Hidden in plain sight: how vaping manufacturers exploit legislative loopholesAlexander Larcombe BScEnv (Hons) PhD Honorary Research Fellow Honorary Research Fellow Associate Professor Alexander Larcombe began work at The Kids
News & Events
Top researchers recognised for respiratory researchTwo leading researchers from The Kids received significant endorsements to advance their research at last night’s Thoracic Society of Australia and New Zealand and the Australian and New Zealand Society of Respiratory Science (TSANZSRS) Annual Scientific Meeting in Adelaide.
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Cure4CF Grant a boost for innovative Cystic Fibrosis researchA $350,000 Cure4 Cystic Fibrosis grant is set to propel the Wal-yan Respiratory Research Centre’s Phage WA program forward, supercharging its fight against antimicrobial resistant (AMR) lung infections in people with Cystic Fibrosis (CF) using cutting-edge phage therapy.
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Respiratory researcher named joint winner of prestigious Premier’s Science AwardCongratulations to respiratory health researcher and clinician Dr Pam Laird, who was last night named joint winner of Early Career Scientist of the Year at the 2024 Premier’s Science Awards.
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Toxic, harmful chemicals found in popular Australian e-liquidsPerth researchers have found toxic and harmful chemicals in several dozen e-cigarette liquids readily available in Australia.
Research
The potential of antisense oligonucleotide therapies for inherited childhood lung diseasesAntisense oligonucleotides are an emerging therapeutic option to treat diseases with known genetic origin. In the age of personalised medicines, antisense oligonucleotides can sometimes be designed to target and bypass or overcome a patient's genetic mutation, in particular those lesions that compromise normal pre-mRNA processing. Antisense oligonucleotides can alter gene expression through a variety of mechanisms as determined by the chemistry and antisense oligomer design.
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AERIAL allergy and asthma study celebrates recruitment of final babyThe AERIAL study, in partnership with The ORIGINS Project, endeavours to understand if exposures during pregnancy and early life can affect the cells lining the airways in newborns, and whether this is associated with the development of wheeze, allergy and asthma later in childhood.
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Seven innovative lung health research projects supported by Wal-yan Centre fundingSeven innovative lung health research projects have received funding support as the 2023 Wal-yan Respiratory Research Centre Strategic Inspiration Projects.