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Cystic Fibrosis
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TLDR
Advances in understanding and treatment of cystic fibrosis are summarized, focusing on pulmonary disease, which accounts for most morbidity and deaths.Abstract:
Cystic fibrosis is the most common autosomal recessive disorder in white people, with a frequency of about 1 in 2500 livebirths. Discovery of the mutated gene encoding a defective chloride channel in epithelial cells--named cystic fibrosis transmembrane conductance regulator (CFTR)--has improved our understanding of the disorder's pathophysiology and has aided diagnosis, but has shown the disease's complexity. Gene replacement therapy is still far from being used in patients with cystic fibrosis, mostly because of difficulties of targeting the appropriate cells. Life expectancy of patients with the disorder has been greatly increased over past decades because of better notions of symptomatic treatment strategies. Here, we summarise advances in understanding and treatment of cystic fibrosis, focusing on pulmonary disease, which accounts for most morbidity and deaths.read more
Citations
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Journal ArticleDOI
The Retinal Pigment Epithelium in Visual Function
TL;DR: This review summarizes the current knowledge of RPE functions and describes how failure of these functions causes loss of visual function.
Journal ArticleDOI
American Thoracic Society/European Respiratory Society Statement on Pulmonary Rehabilitation
Linda Nici,Claudio F. Donner,Emiel F.M. Wouters,Richard ZuWallack,Nicolino Ambrosino,Jean Bourbeau,Mauro Carone,Bartolome R. Celli,Mariëlle P.K.J. Engelen,Bonnie Fahy,Chris Garvey,Roger S. Goldstein,Rik Gosselink,Suzanne C. Lareau,Neil R. MacIntyre,François Maltais,Mike Morgan,Denis E. O'Donnell,Christian Prefault,Jane Z. Reardon,Carolyn L. Rochester,Annemie M. W. J. Schols,Sally J Singh,Thierry Troosters +23 more
TL;DR: Linda Nici, Claudio Donner, Emiel Wouters, Richard Zuwallack, Nicolino Ambrosino, Jean Bourbeau, Mauro Carone, Bartolome Celli, Marielle Engelen, Bonnie Fahy, Chris Garvey, Roger Goldstein, Rik Gosselink, Suzanne Lareau, Neil MacIntyre, Francois Maltais, Mike Morgan, Denis O’Donnell, Christian Prefault, Jane Reardon, Carolyn Rochester
Journal ArticleDOI
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
Bonnie W. Ramsey,Jane C. Davies,N. Gerard McElvaney,Elizabeth Tullis,Scott C. Bell,Pavel Dř evínek,Matthias Griese,Edward F. McKone,Claire E. Wainwright,Michael W. Konstan,Richard B. Moss,Felix Ratjen,Isabelle Sermet-Gaudelus,Steven M. Rowe,Qunming Dong,Sally Rodriguez,Karl Yen,Claudia L. Ordoñez,J. Stuart Elborn +18 more
TL;DR: Ivacaftor was associated with improvements in lung function at 2 weeks that were sustained through 48 weeks and substantial improvements were also observed in the risk of pulmonary exacerbations, patient-reported respiratory symptoms, weight, and concentration of sweat chloride.
Journal ArticleDOI
Lumacaftor–Ivacaftor in Patients with Cystic Fibrosis Homozygous for Phe508del CFTR
Jennifer L. Taylor-Cousar,Anne Munck,Edward F. McKone,Cornelis K. van der Ent,Alexander Moeller,Christopher Simard,Linda T Wang,Edward P. Ingenito,Charlotte M. McKee,Yimeng Lu,J Lekstrom-Himes,J. Stuart Elborn +11 more
TL;DR: These data show that lumacaftor in combination with ivacaftors provided a benefit for patients with cystic fibrosis homozygous for the Phe508del CFTR mutation.
Journal ArticleDOI
Functional Repair of CFTR by CRISPR/Cas9 in Intestinal Stem Cell Organoids of Cystic Fibrosis Patients
Gerald Schwank,Bon-Kyoung Koo,Valentina Sasselli,Johanna F. Dekkers,Inha Heo,Turan Demircan,Nobuo Sasaki,Sander Boymans,Edwin Cuppen,Cornelis K. van der Ent,Edward E. S. Nieuwenhuis,Jeffrey M. Beekman,Hans Clevers +12 more
TL;DR: The CRISPR/Cas9 genome editing system is used to correct the CFTR locus by homologous recombination in cultured intestinal stem cells of CF patients and the corrected allele is expressed and fully functional as measured in clonally expanded organoids.
References
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Journal ArticleDOI
Modifier genes in cystic fibrosis lung disease.
TL;DR: It is now clear that CFTR genotype alone does not account for the wide diversity in CF pulmonary phenotype and evidence is accumulating that secondary genetic factors separate from the CFTR locus significantly influence the severity of CF lung disease.
Related Papers (5)
A CFTR potentiator in patients with cystic fibrosis and the G551D mutation
Bonnie W. Ramsey,Jane C. Davies,N. Gerard McElvaney,Elizabeth Tullis,Scott C. Bell,Pavel Dř evínek,Matthias Griese,Edward F. McKone,Claire E. Wainwright,Michael W. Konstan,Richard B. Moss,Felix Ratjen,Isabelle Sermet-Gaudelus,Steven M. Rowe,Qunming Dong,Sally Rodriguez,Karl Yen,Claudia L. Ordoñez,J. Stuart Elborn +18 more