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 new potential therapies to treat the underlying cause of the disease.
In this video, learn more about gating CF mutations (e.g., G551D) and how potential new drugs might help a person with one of these mutations.
What is the role of genetics in CF: https://www.cff.org/What-is-CF/Role-of-Genetics-in-CF/
Learn more about your mutations: https://www.cff.org/What-is-CF/Genetics/Find-Out-More-About-Your-Mutations/
Mutation Analysis Program: https://www.cff.org/Care/Clinician-Resources/Mutation-Analysis-Program/