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Tuesday, July 19, 2011
Severity of Cystic Fibrosis Linked to Genetics
Such a fascinating debate in the CF community over to what extent CF genes influence clinical outcomes. This is such an amazingly cool study!
Dr. Garry Cutting, from the Institute for Genetic Medicine at Johns Hopkins, explains, “We already know which gene causes cystic fibrosis, but to a large extent that gene does not by itself explain how severe the condition will be.”
Researchers have found that the severity of cystic fibrosis, which is a life-threatening hereditary condition that affects the lungs and digestive system, is seemed to be influenced by genetic variations.
According to Dr. Garry Cutting, a professor of pediatrics and a member of the McKusick-Nathans Institute for Genetic Medicine at Johns Hopkins, most cystic fibrosis patients born today live to their mid-30’s but that’s an average. Some succumb to the disease before their 10th birthday, while others live into their 50s and we wanted to know why.
For the study, the researchers used and analyzed a data from 3,467 patients, which included 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. With this study, the team aims to achieve help extend the life expectancy of the people having this kind of disease.
The team of the three studies collaborated and analyzed 600,000 sites of variation that is found within the genome, hoping to search common variations which are more frequently associated with severe cases of the disease.
After this, the researchers were “able to identify a region encompassed by two genes on chromosome 11 linked to severe cases of the disease.” Chromosome 20 on the second region was also identified.
Cutting explained, “We already know which gene causes cystic fibrosis, but to a large extent that gene does not by itself explain how severe the condition will be.” He further added that they’ve already discovered new genes that influence the course of disease and may enable prediction of the disease’s severity and, most importantly, the customization of treatments for patients with unfavorable genetic modifiers — this is the realization of individualized medicine.
Moreover, Cutting concluded that this study might be the first step in developing therapies for the patients with cystic fibrosis.