In an international research project, scientists are examining cystic fibrosis transmembrane conductance regulator (CFTR) mutations to determine which ones cause CF and to provide additional information associated with these mutations. Their findings are available in an online searchable database.
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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.
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.
This program is intended to introduce students to cystic fibrosis research and encourage them to remain engaged in the field.
When participating in a clinical trial, nothing is more important than your safety. We go the extra mile when it comes to protecting study volunteers.
There are two main types of clinical studies in CF research. Both are important to move research forward and provide the best outcomes for people with CF.
Because of the wide variety of mental health concerns and needs of the CF population, the Cystic Fibrosis Foundation has formed the Prioritizing Research in Mental Health (PRIME) Working Group, which is dedicated to mental health research.
The Cystic Fibrosis National Resource Centers provide study sponsors and investigators centralized expertise in