Reprint

Molecular Basis and Gene Therapies of Cystic Fibrosis

Edited by
December 2020
208 pages
  • ISBN978-3-03943-683-5 (Hardback)
  • ISBN978-3-03943-684-2 (PDF)

This book is a reprint of the Special Issue Molecular Basis and Gene Therapies of Cystic Fibrosis that was published in

Biology & Life Sciences
Summary
Summary of Genes. Thirty years ago, the gene responsible for cystic fibrosis (CF), a recessive genetic disease caused by mutations in the cystic fibrosis transmembrane conductance regulator gene, was identified. This progress has considerably changed our understanding of the pathophysiology of CF and has paved the way for the development of novel and specific therapies for the disease. The CFTR gene contains 27 exons and is characterized by a frequent three base pair deletion of the p.Phe508del. As a result of collaborative work, today more than 2000 mutations have been reported in the gene, and their impact on protein function is now more evident and useful in designing new strategies to correct the gene defect. The field of gene therapy, as illustrated by Ziying Yan in this book, has worked on identifying an efficient vector system for the delivery of the wild-type CFTR gene to the lung. At the same time, animal models have been developed in mice, rats, rabbits, zebrafish, ferrets, and pigs to establish the efficacity of gene delivery. These animals are also of the utmost importance in testing new molecules as modulators or correctors to improve the CFTR lung function. During the last three decades, the epidemiology of CF has dramatically changed, as today cystic fibrosis is now a chronic adult pulmonary disease.
Format
  • Hardback
License
© 2020 by the authors; CC BY-NC-ND licence
Keywords
cystic fibrosis; Staphylococcus aureus; superantigen; enterotoxin gene cluster; MRSA; exosomes; microvesicles; cystic fibrosis; lung; primary cells; cystic fibrosis; newborn screening; trypsinogen; CFTR gene; next generation sequencing; health policy; rAAV2/HBoV1; baculovirus; insect cells; cystic fibrosis; lung microbiome; metagenomics; gut–lung axis; Cystic fibrosis; CFTR; transcriptomics; proteostasis; small molecules; drug development; cystic fibrosis; CFTR gene; common and new pathogenic variants; ethnic Russian population; cystic fibrosis; gene therapy; cyclophosphamide; transient immunosuppression; cystic fibrosis; CFTR gene; incidence; survival; genotype-phenotype correlations; health policies; newborn screening; CFTR modulators; cystic fibrosis; CFTR; human nasal epithelial cells; organoids; biomarker; functional assay; CFTR modulators; pre-clinical in vitro models; cystic fibrosis; CFTR; CFTR-related disorders; molecular diagnosis; CFTR variants; Next Generation Sequencing (NGS); disease liability; interpretation; penetrance; genotype-guided therapy; miRNA; airway basal cell; CFTR; gene therapy; lentivirus