Researchers have identified more than 1,700 mutations in the cystic fibrosis gene. Different CF mutations are grouped into classes or types, based on the way the mutations affect the key protein (called CFTR) produced by the CF gene.
Using these classes of mutations can help scientists and doctors better understand CF and develop potential new therapies to treat the underlying cause of the disease.
Nonsense or Stop Cystic Fibrosis Mutations (e.g., G542X)
Watch the webcast below to learn more about nonsense or stop mutations of CF and how potential new drugs might help a person with one of these mutations.
Gating Cystic Fibrosis Mutations (e.g., G551D)
Watch the webcast below to learn more about gating mutations of CF and how potential new drugs might help a person with one of these mutations.
Protein-Processing Cystic Fibrosis Mutations (e.g., F508del)
Watch the webcast below to learn more about protein processing mutations of CF and how potential new drugs might help a person with one of these mutations.
Other Cystic Fibrosis Mutations (e.g., R117H)
Watch the webcast below to learn more about other mutations of CF and how potential new drugs might help a person with one of these mutations.