F1000Prime Rep. 2015; 7: 64.
Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasians and has been extensively studied for many decades.
The cystic fibrosis transmembrane conductance regulator gene was identified in 1989.
It encodes a complex protein which has numerous cellular functions. Our understanding of cystic fibrosis pathophysiology and genetics is constantly expanding and being refined, leading to improved management of the disease and increased life expectancy in affected individuals.