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Cystic fibrosis is a rare genetic disease found in about 30,000 people in the United States and 70,000 worldwide. Most children are now screened for CF at birth through newborn screening and the majority are diagnosed by age 2. However, some people with CF are diagnosed as adults. If you have CF or are considering testing for it, knowing some general information about the role of genetics in CF can help you make informed decisions about your health care.
Explainer
Blog Post
CF Genetics: The Basics
Learn the basic genetics behind cystic fibrosis, including the effects that CF gene changes have on the body, and different types of CF mutations.
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Article
Know Your CF Mutations
Learn about your specific cystic fibrosis mutations so you and your doctor can find the treatments that work best for you.
CFTR2
This resource helps individuals find the connections between different CF mutations and specific symptoms of CF, and can inform potential therapies.
Mutation Analysis Program
The CF Foundation's Mutation Analysis Program provides free genetic testing to people with CF to help identify their CF gene mutations.
Carrier Testing for CF
CF is an inherited disease passed from parent to child. Genetic testing can be used to tell if a person carries a mutation of the CF gene or carries two CF disease-causing mutations.
CF Mutations Video Series
Researchers have identified more than 1,800 mutations in the cystic fibrosis gene. Learn more about specific cystic fibrosis gene mutations in this four-part video series.
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With more than 70 chapters and offices across the country, it’s easy to find and join a local Cystic Fibrosis Foundation chapter near you.
Cystic Fibrosis Foundation
6931 Arlington Road 2nd floor Bethesda, MD 20814
301-951-4422
800-344-4823 (toll free)
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