Cystic fibrosis biological samples are available to qualified researchers to help develop promising new studies that will support CF research and aid in drug development and drug discovery.
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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.
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.
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.
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.