Since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989, important advances in the field of cystic fibrosis (CF) and its management, including more aggressive use of nutritional replacement and antibiotics, have significantly improved patient outcomes.¹ The predicted life span of patients with CF has increased from approximately 5 years in the 1950s to 30 to 40 years today.^2,3 Recent insights into the pathophysiology of CF and the role of CFTR mutations and their consequences have led to an improved understanding about the course and mechanism of this disease.²

Scientific animations show the genetic mutations resulting in defective CFTR protein synthesis and CF disease.

Downloadable slides presenting how CFTR mutations yield deficient chloride transport and its clinical consequences.

This Web site has been designed to provide health care providers with information to improve the knowledge and understanding of the individual patient's genotype and the molecular mechanisms underlying the disease. This knowledge may become integral to the management of CF.

CFTR has multiple and complex functions in the lung, pancreas, gastrointestinal tract, reproductive system, and hepatic and renal epithelia.