Please provide your email address to receive an email when new articles are posted on . Few patients with cystic fibrosis have a copy of the 3849+10kb C-to-T splicing mutation. Research is planned to ...
This photo provided by Emily’s Entourage in April 2025 shows Emily Kramer-Golinkoff, who has cystic fibrosis caused by a rare genetic mutation, during a trip to Maine. (Emily’s Entourage via AP) Emily ...
Two mutated alleles of the cystic fibrosis transmembrane conductance regulator (CFTR) gene result in the autosomal recessive ...
Cystic fibrosis (CF) is a common genetic disorders that has been well studied. Researchers have identified CF-causing mutations in a gene called CFTR, which encodes for an ion channel. The genetic ...
Yale researchers successfully corrected the most common mutation in the gene that causes cystic fibrosis, a lethal genetic disorder. The study was published April 27 in Nature Communications. Cystic ...
SPL84 is administered directly into the lungs where it is taken up by the cells and is expected to drive the production of fully functional CFTR proteins. The Food and Drug Administration (FDA) has ...
Please provide your email address to receive an email when new articles are posted on . Sweat chloride did not significantly differ between baseline and day 28 of triple therapy in this patient ...
Cystic fibrosis could affect anyone, of any ethnicity. But many medical professionals are still incorrectly taught that CF is a white disease. For decades, it has been overlooked in people of color -- ...
Breathing disorders are common in the U.S. with conditions like COPD affecting some 7% of the population and asthma affecting another 10%. Digestive conditions like GERD, acid reflux, Celiac disease ...
NATIONWIDE — Emily Kramer-Golinkoff can't get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most ...
Emily Kramer-Golinkoff can’t get enough oxygen with each breath. Advanced cystic fibrosis makes even simple things like walking or showering arduous and exhausting. She has the most common fatal ...
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