In the Caribbean, Rare Mutations Dominate for Cystic Fibrosis

According to a story from scienceblog.com, a recent study has revealed that large portion of cystic fibrosis cases recorded in the Dominican Republic and Puerto Rico are linked to genetic mutations that are generally considered rare for the disorder. Typically, cystic fibrosis is linked to mutations of the CFTR gene (95 percent of cases), but the Dominican patients often had no mutations in this gene at all.

About Cystic Fibrosis

Cystic fibrosis is a type of genetic disorder which can have impacts throughout the body, but it is most characterized by the build up of abnormally thick, sticky mucus in the lungs. This mucus becomes a fertile breeding ground and habitat for potentially infectious bacteria. Many patients must take antibiotics for much of their lives. This disorder is caused by mutations of the CFTR gene. Symptoms of cystic fibrosis include progressive decline in lung function, lung and sinus infections, coughing up mucus, fatty stool, poor growth, infertility in males, clubbed digits, and digestive problems. Treatment includes antibiotics and medications or procedures intended to maintain lung function. Lung transplant is an option when lung function declines severely. Life expectancy ranges into the 40s and 50s with good care. To learn more about cystic fibrosis, click here.

The Racial Gap in Research and Treatment

The bad news about this discovery is that the modulator-style drugs which have become the front-line treatment for cystic fibrosis, such as the widely hailed and recently approved Trikafta, won’t have any effect for these patients. Mutations that, while generally rare, are more likely to impact people of color with the disorder remain poorly researched. This is perhaps a reflection of broader racial bias in medical research and drug development, which tends to prioritize its research on whites. Latinx patients comprise around nine percent of cases, but they aren’t always included in clinical trials, suffer more severe symptoms, and die earlier in life than white patients.

These mutations have not become part of standard diagnostic screenings and have not been investigated for therapeutic targets, having implications not only for treatment, but for diagnosis as well. It is abundantly clear that the priority focus of cystic fibrosis research in the future should be the investigation of these genetic mutations and the development of a treatment that can act on them.

Check out the original study here.


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