Genetics e Rare diseases

Genes Tied to Severity of Cystic Fibrosis Identified

The severity of cystic fibrosis, a life-threatening hereditary condition that affects the lungs and digestive system, seems to be influenced by genetic variations, researchers have found. The study, published online in Nature Genetics, used DNA from 3,467 patients -- including unrelated patients from the Genetic Modifier Study out of the University of North Carolina at Chapel Hill, the Canadian Consortium for Genetic Studies out of the University of Toronto, and related patients and their parents from the CF Twin and Sibling Study at Johns Hopkins. The researchers were able to identify a region encompassed by two genes on chromosome 11 linked to severe cases of the disease. A second region on chromosome 20 was also identified. Continued study of this region revealed five genes that are turned on in respiratory cells, some of which are known to cause inflammation.
Read more

 http://www.nlm.nih.gov/enter/medlineplus/rss?feed=Todays%20M...

Medline Plus