New Therapies to Correct the Cystic Fibrosis Basic Defect
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Department of Medicine, Respiratory Division, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, QC J1H 5N4, Canada
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Centre de Recherche du Centre Hospitalier Universitaire de Sherbrooke, Respiratory Division, Faculty of Medicine, University of Sherbrooke, 3001, 12e Avenue Nord, Sherbrooke, QC J1H 5N4, Canada
*
Author to whom correspondence should be addressed.
Academic Editor: Silvia Ortega-Gutiérrez
Int. J. Mol. Sci. 2021, 22(12), 6193; https://doi.org/10.3390/ijms22126193
Received: 29 April 2021
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Revised: 31 May 2021
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Accepted: 4 June 2021
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Published: 8 June 2021
(This article belongs to the Special Issue New Pharmacological Approaches for Rare Diseases)
Rare diseases affect 400 million individuals worldwide and cause significant morbidity and mortality. Finding solutions for rare diseases can be very challenging for physicians and researchers. Cystic fibrosis (CF), a genetic, autosomal recessive, multisystemic, life-limiting disease does not escape this sad reality. Despite phenomenal progress in our understanding of this disease, treatment remains difficult. Until recently, therapies for CF individuals were focused on symptom management. The discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and its product, a protein present at the apical surface of epithelial cells regulating ion transport, allowed the scientific community to learn about the basic defect in CF and to study potential therapies targeting the dysfunctional protein. In the past few years, promising therapies with the goal to restore CFTR function became available and changed the lives of several CF patients. These medications, called CFTR modulators, aim to correct, potentialize, stabilize or amplify CFTR function. Furthermore, research is ongoing to develop other targeted therapies that could be more efficient and benefit a larger proportion of the CF community. The purpose of this review is to summarize our current knowledge of CF genetics and therapies restoring CFTR function, particularly CFTR modulators and gene therapy.
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Keywords:
cystic fibrosis; CFTR; CFTR modulators; gene therapy
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MDPI and ACS Style
Bergeron, C.; Cantin, A.M. New Therapies to Correct the Cystic Fibrosis Basic Defect. Int. J. Mol. Sci. 2021, 22, 6193. https://doi.org/10.3390/ijms22126193
AMA Style
Bergeron C, Cantin AM. New Therapies to Correct the Cystic Fibrosis Basic Defect. International Journal of Molecular Sciences. 2021; 22(12):6193. https://doi.org/10.3390/ijms22126193
Chicago/Turabian StyleBergeron, Christelle, and André M. Cantin. 2021. "New Therapies to Correct the Cystic Fibrosis Basic Defect" International Journal of Molecular Sciences 22, no. 12: 6193. https://doi.org/10.3390/ijms22126193
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