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.
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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.
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.
As children with cystic fibrosis transition toward greater independence at school and at home, they will also take greater responsibility in managing their disease.
Delayed puberty is common among young men with CF, but working with your CF care team to ensure you get good nutrition can help encourage healthy development and growth.
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.