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The medical community is experiencing a measure of excitement over positive results reported by researchers who tested a new gene-targeting drug that promises to relieve the effects of some cases of cystic fibrosis at their source.
Cystic fibrosis (CF) is a hereditary disease that causes thick mucus to build up in the lungs (sometimes in other organs), which causes breathing difficulties. The buildup causes infection and inflammation, often leading to death. The average lifespan of someone suffering from CF is 37.
The study was published this Wednesday, November 10, in the New England Journal of Medicine. The drug ivacaftor, designed by Vertex Pharmaceuticals, was shown to improve lung function by targeting the culprit gene, known as G551D. This restores a healthy equilibrium of salt and water in the patient's airways, thereby eliminating the mucus that is the hallmark of CF.
The good news, however, is relatively small. Only 4% of CF sufferers have G551D. Over 90% have CF from the gene 508-CFTR. Also, the test cannot say how long the effects of the twice-daily medicine will work after 11 months. However, as far as it goes, this is a substantial discovery, and is hoped to extend the life span of about 2800 people per year, in lieu of other treatments being used to today, which only target symptoms.
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