Reports and Findings
Research
SLC6A14 Impacts Cystic Fibrosis Lung Disease Severity via mTOR and Epithelial Repair ModulationCystic 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.
Research
Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse ModelSeverity and disease progression in people with Cystic Fibrosis is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides. CFTR exon 9 is an in-frame exon and hence the exclusion of this exon would excise only 31 amino acids but not alter the reading frame of the remaining mRNA.
Research
Mucus and mucus flake composition and abundance reflect inflammatory and infection status in cystic fibrosisMucus hyperconcentration in cystic fibrosis (CF) lung disease is marked by increases in both mucin and DNA concentration. Additionally, it has been shown that half of the mucins present in bronchial alveolar lavage fluid from preschool-aged CF patients are present in as non-swellable mucus flakes.
Research
Toxicity of different biodiesel exhausts in primary human airway epithelial cells grown at air-liquid interfaceBiodiesel 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.
Research
Genome-wide Association Meta-analysis of Childhood and Adolescent Internalizing SymptomsTo investigate the genetic architecture of internalizing symptoms in childhood and adolescence.
Research
Responding to Suicide Clusters in the Community: What Do Existing Suicide Cluster Response Frameworks Recommend and How Are They Implemented?Suicide clusters involve an excessive number of suicides, suicide attempts, or both, that occur close in space or time or involve social links between cluster members. Although suicide clusters are rare, evidence documenting the implementation of suicide cluster response activities in communities is required yet remains limited.
Research
A review of Australian Government funding of parenting intervention researchParenting is central to children's optimal development and accounts for a substantial proportion of the variance in child outcomes, including up to 40% of child mental health. Parenting is also one of the most modifiable, proximal, and direct factors for preventing and treating a range of children's problems and enhancing wellbeing.
Research
Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorderCyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families.
Research
Molecular Methodologies for Improved Polymicrobial Sepsis DiagnosisPolymicrobial sepsis is associated with worse patient outcomes than monomicrobial sepsis. Routinely used culture-dependent microbiological diagnostic techniques have low sensitivity, often leading to missed identification of all causative organisms.
Research
Validation of a rapid, saliva-based, and ultra-sensitive SARS-CoV-2 screening system for pandemic-scale infection surveillanceWithout any realistic prospect of comprehensive global vaccine coverage and lasting immunity, control of pandemics such as COVID-19 will require implementation of large-scale, rapid identification and isolation of infectious individuals to limit further transmission. Here, we describe an automated, high-throughput integrated screening platform, incorporating saliva-based loop-mediated isothermal amplification (LAMP) technology, that is designed for population-scale sensitive detection of infectious carriers of SARS-CoV-2 RNA.