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Theratyping matches therapies, or medications, to specific types of mutations. The primary goal of theratyping is to identify which mutations respond to certain CFTR modulators, thereby helping people with rare CFTR mutations gain access to already approved modulators quickly and safely.
Some genetic diseases, such as cystic fibrosis, are caused by mutations in a single gene. A gene contains DNA “letters” that spell out the instructions to make a specific protein. When the protein isn't made correctly, it can lead to a cascade of problems.
Carrier (or genetic) testing not only plays a key role in the diagnosis of cystic fibrosis, but testing also allows parents to find out what their chances are of having a child with CF to help inform important family planning decisions.
Learn about the rights of Cystic Fibrosis Foundation donors.
Cystic fibrosis is caused by mutations in the gene responsible for producing the cystic fibrosis transmembrane conductance regulator (CFTR) protein. For this reason, scientists are exploring ways to provide a correct copy of the gene to treat CF.
Working alongside the CF community, the Foundation has fostered the development of more than a dozen CF treatments — an unprecedented number in a short span of time — and helped add decades of life for people with CF. And while therapies such as Trikafta® have had an incredible impact on the lives of those with CF, there are still many people with this disease who do not benefit from existing treatments. Our goal is to cure cystic fibrosis.
We are excited that this spring, in Washington, DC, from March 13-16, 2024, there will be an enriched conference experience that combines March on the Hill (MOH) and our Volunteer Leadership Conference (VLC) into one extraordinary event for our leading volunteers with the theme of Hope in Action.
National Teams raise awareness about cystic fibrosis, and raise funds to support the Foundation's mission to find a cure for CF.
The objective of this award is to support excellent cystic fibrosis-related research projects that have been approved by the National Institutes of Health (or governmental funding agencies in other countries) but cannot be supported by available funds.