Cystic fibrosis

Cystic fibrosis (CF) is an autosomal recessive, genetic disorder that leads to a multi-system organ dysfunction. Cystic fibrosis is the most common fatal genetic disorder in the Caucasian population, affecting approximately 80,000 patients in the US and EU. Cystic fibrosis involves all epithelial cells, and classically impacts the lungs, sinuses, pancreas, liver/bile ducts, intestines, reproductive tract, bones, and sweat glands. The most serious consequence of CF is respiratory disease. Due to mucus hyperviscosity, individuals with CF develop chronic lung infections, leading to chronic inflammation and lung scarring. Progressive lung dysfunction is the most significant cause of morbidity and mortality. 

CF is caused by functional defects of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, a chloride channel that controls ion and water content in epithelial cells. A large number of mutations can affect the CFTR protein, the most frequent being delF508. The delF508 mutation gives rise to a CFTR protein that retains some function, but which is not transported properly to the plasma membrane. As a result, ion and water movements through the epithelial cell membrane are abnormal, causing mucus hyperviscosity.

Current therapies for CF involve mucolytics, antibiotics to prevent bacterial colonization and lung infection, and nutritional management. There is currently no disease modifying drug approved for CF.