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Cystic 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.
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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.
At The Kids Research Institute Australia, our vision is simple - happy healthy kids. We bring together community, researchers, practitioners, policy makers and funders who share our mission to improve the health, development and lives of children and young people through excellence in research.
At The Kids Research Institute Australia, our vision is simple - happy healthy kids. We bring together community, researchers, practitioners, policy makers and funders who share our mission to improve the health, development and lives of children and young people through excellence in research.
At The Kids Research Institute Australia, our vision is simple - happy healthy kids. We bring together community, researchers, practitioners, policy makers and funders who share our mission to improve the health, development and lives of children and young people through excellence in research.
At The Kids Research Institute Australia, our vision is simple - happy healthy kids. We bring together community, researchers, practitioners, policy makers and funders who share our mission to improve the health, development and lives of children and young people through excellence in research.
At The Kids Research Institute Australia, our vision is simple - happy healthy kids. We bring together community, researchers, practitioners, policy makers and funders who share our mission to improve the health, development and lives of children and young people through excellence in research.
At The Kids Research Institute Australia, our vision is simple - happy healthy kids.
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View The Kids Research Institute Australia's 2025 Impact Report