The goal of the CFTR Chemical Compound program is to enable cystic fibrosis research scientists to test known cystic fibrosis transmembrane conductance regulator (CFTR) modulating compounds in different functional assays.
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Influenza, or “the flu,” is a highly contagious respiratory illness that is caused by a virus. For people with cystic fibrosis, getting the flu may cause a worsening of symptoms and lead to a faster decline in lung function.
The faulty gene that causes cystic fibrosis disrupts the normal flow of salt and water in and out of the lungs and other organs. This salt imbalance results in thick, sticky mucus that builds up in the lungs, allowing germs to thrive and multiply.
Every person has two copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. A person must inherit two copies of the CFTR gene that contain mutations — one copy from each parent — to have cystic fibrosis.
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.
There are many things you can do to help reduce the risk of getting or spreading germs while traveling.
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.
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.