Cystic Fibrosis

Cystic fibrosis (CF) is a lethal genetic disorder mainly affecting Caucasians caused by mutations in the CFTR gene encoding a chloride ion channel. The most common ∆F508 mutation alters CFTR folding and prevents its expression on epithelial cell surfaces disrupting ion and water transport and leading to thick mucus a hallmark of CF lung disease. Treatments have advanced with antibiotics managing chronic infections and CFTR modulators (ivacaftor tezacaftor elexacaftor) improving protein function. Yet many patients with rare mutations or drug resistance remain untreated. Emerging therapies now focus on gene therapy to correct or replace the defective CFTR gene and on cell therapy to regenerate functional epithelium from corrected stem cells. Combining these strategies offers a promising path toward personalized long-term correction of the molecular cause of CF.