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Cystic fibrosis (CF) is the main genetic cause of death among the Caucasian population. The disease is characterized by abnormal fluid and electrolyte mobility across secretory epithelia. The first manifestations occur within hours of birth (meconium ileus), later extending to other organs, generally affecting the respiratory tract. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CFTR encodes a cyclic adenosine monophosphate (cAMP)-dependent, phosphorylation-regulated chloride channel required for transport of chloride and other ions through cell membranes. There are more than 2,000 mutations described in the CFTR gene, but one of them, phenylalanine residue at amino acid position 508 (p.F508del), a recessive allele, is responsible for the vast majority of CF cases worldwide. Here, we present the results of the application of genome-editing techniques to the restoration of CFTR activity in p.F508del patient-derived induced pluripotent stem cells (iPSCs). Gene-edited iPSCs were subsequently used to produce intestinal organoids on which the physiological activity of the restored gene was tested in forskolin-induced swelling tests. The seamless restoration of the p.F508del mutation resulted in normal expression of the mature CFTR glycoprotein, full recovery of CFTR activity, and a normal response of the repaired organoids to treatment with two approved CF therapies: VX-770 and VX-809.
Pubmed ID: 32373648 RIS Download
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A contract research organization providing drug development and animal testing services. Under the name Covance Research Products Inc., based in Denver, Pennsylvania, the company also deals in the import, breeding and sale of laboratory animals. It breeds dogs, rabbits, guinea pigs, non-human primates, and pigs, and runs the largest non-human primate laboratory in Germany. (Wikipedia)
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View all literature mentionsThe mission of the Cystic Fibrosis Foundation, a nonprofit donor-supported organization, is to assure the development of the means to cure and control cystic fibrosis and to improve the quality of life for those with the disease. The Foundation is the leading organization in the United States devoted to cystic fibrosis. It funds and accredits more than 115 CF care centers, 95 adult care programs and 50 affiliate programs, and more than 75 chapters and branch offices nationwide. The Cystic Fibrosis Foundation is one of the most efficient organizations of its kind and is an accredited charity of the Better Business Bureau''s Wise Giving Alliance. Until we conquer this disease, our team will work tirelessly to extend and enhance life for those with cystic fibrosis by functioning as: * Scientific pioneers, blazing new trails in CF research; * Fund-raisers, securing the money needed to support our efforts; * Advocates, keeping CF a top priority in government, industry and research; * Investors, funding drug discovery and development; * Caregivers, linking patients and families to specialized CF care; and * Family, offering support, information and resources.
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