Cystic fibrosis

Worldwide, 162 428 people are estimated to be living with cystic fibrosis.
105 352 cases of cystic fibrosis are diagnosed.
57 076 patients are undiagnosed.

Cystic fibrosis (CF) is a multisystem disease with utosomal recessive inheritence, affecting the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF mainly affects the lungs and pancreas, but also the upper airways, liver, intestine, and reproductive organs. Currently, more than 2000 germline sequence variants of the CFTR gene have already been identified, though not all result in CF.

Download fastGEN CFTR leaflet