Cystic fibrosis

Cystic fibrosis (CF) is a life-threatening, inherited disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a protein responsible for regulating chloride and other ion transport across epithelial surfaces. CF is an autosomal recessive disease that affects an estimated 70,000 to 100,000 people worldwide, with approximately 30,000 cases each in the U.S. and Europe. More than 2,000 mutations in CFTR have been identified, with disease-causing variants grouped into six classes (I–VI) based on their impact on CFTR protein production and function. The most common mutation, ΔF508, leads to a misfolded or absent protein, resulting in thick, sticky mucus that accumulates in the lungs, pancreas, and other organs—causing chronic respiratory infections, progressive lung damage, digestive dysfunction, and multi-organ complications. CF is one of the most well-characterized monogenic diseases and has become a model for precision medicine. While CFTR modulators have transformed care for many patients, substantial unmet need remains, particularly among those with rare or non-responsive mutations. Gene therapy presents a compelling opportunity to directly address the root genetic cause of CF, offering the potential for durable, possibly curative outcomes that could significantly reshape the treatment landscape.