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- W2151217094 abstract "Treatment of cystic fibrosis (CF) is in a state of transition. 25 yrs ago the emphasis was on the downstream consequences of the disease, the prevention (as far as possible) and treatment of airway infection and inflammation, malabsorption, diabetes, liver disease and the many complications, such as bone disease and subclinical insulin deficiency, that have emerged as longevity has increased. In 1989, the CF gene (CF transmembrane regulator; CFTR) was localised to the long arm of chromosome 7 1–3 and confirmed to be a chloride ion transporter. This has stimulated an explosion of knowledge about the basic biology of CF. Amongst the many advances, the recognition 4 that there are different classes of mutations (table 1) has raised the possibility of genotype specific therapy, not merely for CF, but also for other genetic diseases. Perhaps in the future we will be asking not which gene locus is affected in a given patient, but which class of problem is the issue. Over-riding premature stop codons (class 1 mutations) may potentially lead to an improvement in other respiratory diseases ( e.g. primary ciliary dyskinesia) and non-respiratory conditions, such as Duchenne muscular dystrophy. We stand on the threshold of a new exciting age of treatments aimed at the basic molecular defect in CF, far upstream from the catastrophic consequences of CFTR dysfunction on end organs.View this table:Table 1– Potential genotype specific therapies for cystic fibrosis However, clear-headed consideration is warranted amongst …" @default.
- W2151217094 created "2016-06-24" @default.
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- W2151217094 date "2010-12-30" @default.
- W2151217094 modified "2023-09-25" @default.
- W2151217094 title "The journey of a thousand miles" @default.
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- W2151217094 doi "https://doi.org/10.1183/09031936.00166010" @default.
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