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Research

The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal Disorders

This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families.

Research

Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse Model

Severity 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.

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Cellular and molecular changes to cortical neurons following low intensity repetitive magnetic stimulation at different frequencies

A systematic comparison of the cellular and molecular changes in neurons in vitro induced by low intensity magnetic stimulation at different frequencies.

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Cystic fibrosis clinical isolates of aspergillus fumigatus induce similar muco-inflammatory responses in primary airway epithelial cells

Aspergillus is increasingly associated with lung inflammation and mucus plugging in early cystic fibrosis disease during which conidia burden is low and strains appear to be highly diverse. It is unknown whether clinical Aspergillus strains vary in their capacity to induce epithelial inflammation and mucus production.

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The impact of interventions to promote physical activity in urban green space: A systematic review and recommendations for future research

A systematic review was undertaken to assess the effectiveness of interventions to encourage physical activity in urban green space.

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Variation in treatment preferences of pulmonary exacerbations among Australian and New Zealand cystic fibrosis physicians

Despite advances in cystic fibrosis (CF) management and survival, the optimal treatment of pulmonary exacerbations remains unclear. Understanding the variability in treatment approaches among physicians might help prioritise clinical uncertainties to address through clinical trials.

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Childhood adiposity trajectories and risk of nonalcoholic fatty liver disease in adolescents

Nonalcoholic fatty liver disease and its metabolic risk factors are recognized during childhood and adolescence.

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Pseudomonas aeruginosa Resistance to Bacteriophages and Its Prevention by Strategic Therapeutic Cocktail Formulation

Antimicrobial resistance poses a significant threat to modern healthcare as it limits treatment options for bacterial infections, particularly impacting those with chronic conditions such as cystic fibrosis (CF). Viscous mucus accumulation in the lungs of individuals genetically predisposed to CF leads to recurrent bacterial infections, necessitating prolonged antimicrobial chemotherapy. Pseudomonas aeruginosa infections are the predominant driver of CF lung disease, and airway isolates are frequently resistant to multiple antimicrobials.

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Modelling the seasonality of respiratory syncytial virus in young children

The transmission dynamics of RSV infection among young children are still poorly understood and mathematical modelling can be used to better understand...

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Lung function in African infants: A pilot study

Infant lung function (ILF) testing may provide useful information about lung growth and susceptibility to respiratory disease.

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Exposure to household painting and floor treatments, and parental occupational paint exposure and risk of childhood brain tumors

This study investigated whether household exposure to paints and floor treatments and parental occupational painting were associated with CBT risk...

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Predicting disease progression in cystic fibrosis

Comprehensive scores incorporating clinical, lung function, imaging and laboratory data will become essential in the future for predicting disease progression and for use in clinical trials

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Dendritic cells and influenza A virus infection

Influenza A virus (IAV) is a dangerous virus equipped with the potential to evoke widespread pandemic disease.

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Assessment of p.Phe508del-CFTR functional restoration in pediatric primary cystic fibrosis airway epithelial cells

This study assessed an alternative approach, using a small scale halide assay that can be adapted for a personalized high throughput setting to analyze CFTR function of pAEC.

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Genome-wide association study of autistic-like traits in a general population study of young adults

Research has proposed that autistic-like traits in the general population lie on a continuum, with clinical ASD representing the extreme end of this...

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Progressive ventilation inhomogeneity in infants with cystic fibrosis after pulmonary infection

This study aimed to determine how pulmonary inflammation & infection impacts on ventilation distribution throughout early life in people with cystic fibrosis.

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Impact of CD14 promoter variants on measles vaccine responses and vaccine failure in children from Australia and Mozambique

Host genetics are likely to play a crucial role, particularly variants that alter key innate immune response genes.

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PRAGMA-CF. A Quantitative Structural Lung Disease Computed Tomography Outcome in Young Children with Cystic Fibrosis

Chest computed tomography (CT) is the gold standard for demonstrating cystic fibrosis (CF) airway disease. However, there are no standardized outcome...

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Airway macrophages display decreased expression of receptors mediating and regulating scavenging in early cystic fibrosis lung disease

Cystic fibrosis (CF) airway disease is characterized by chronic inflammation, featuring neutrophil influx to the lumen. Airway macrophages (AMs) can promote both inflammation and resolution, and are thus critical to maintaining and restoring homeostasis. CF AM functions, specifically scavenging activity and resolution of inflammation, have been shown to be impaired, yet underlying processes remain unknown.