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Genetics Could Contribute to Cystic Fibrosis Severity


Genetics Could Contribute to Cystic Fibrosis Severity

Cystic Fibrosis is a genetic disorder which affects many bodily systems, including digestion, sweat glands, sinuses and lungs. This disease afflicts over 30,000 people in the United States alone, with over 700 of those living in Georgia, making Atlanta cystic fibrosis a serious problem. Research into this debilitating disease is ongoing, but a new study has identified a whopping five different genetic regions that can indicate the severity of cystic fibrosis.

About Cystic Fibrosis

CF is a genetic disorder that is life-threatening to those who suffer from it. It’s apparent through the thickening and increase of mucus production in the lungs, and the obstruction of air passages. This results in patients having an increased vulnerability to infections throughout the body.

The CTFR gene is the primary culprit in CF. Patients have two copies of this gene which are defective, and this defect can exist as any of literally thousands of different mutations. Even among patients who have identical mutations, the disease can vary greatly in its impact and effect on their health. In some cases, a drug specifically designed to target a given mutation works in one patient and fails in another.

New Genome Locations

According to website Lung Disease News, a new study conducted by an international research group and published recently in the journal Nature Communications has indicated that five regions of the human genome are directly responsible for the severity of CF. These locations each have their own role in varying the disease. They create different kinds of proteins which interact with mutated genes and play a role in defending against lung deterioration.

The study has been going on for fifteen years and involved over 6,350 patients from CF centers around the world. The results of the consortium are drawn from UNC, the University of Toronto, the University of Paris, Case Western and Johns Hopkins. They represent a huge breakthrough which could change the way drugs are used to treat the disease and the ways in which lung function can be addressed and improved. Treatments can be more precise and targeted based on the genetic variations present.

Immediate Progress

This report has been so impactful that researchers at the UNC Marisco Lung Institute and Case Western are already working on follow-up research to develop specialized drugs that target two of the five specific variations revealed. The eventual goal is to be able to create individualized therapy targeted just for specific patients. These treatments can hopefully improve the overall quality of life of CF patients and increase their longevity.

Atlanta Cystic Fibrosis

If you live in the Atlanta region and suffer from CF, your best bet is to work with a qualified medical team including an expert ENT doctor. This team will provide specialized treatment that involves many aspects such as social services, education, diet and nutrition and respiratory care as well as advanced diagnosis and medication. For more information or answers to any of your questions, take some time to read a bit more about the disease, then give us a call for an appointment today!

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