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Changing Outlook for Those With Cystic Fibrosis

Ann Mulligan

"Cystic fibrosis" and "half-Ironman" are not phrases you usually hear in a sentence together, unless you're talking with Ann Mulligan. Mulligan has had a persistent cough since she was 15, but her cystic fibrosis went undiagnosed until she had a genetic test at the age of 36. More than a decade later, she's training for a half-Ironman; that's a 13-mile run, a 56-mile bike ride, and a 1.2-mile swim. And her coach is a professional triathlete, who also has cystic fibrosis.

Cystic fibrosis is an inherited lung disease that affects some 70,000 people worldwide with reduced lung function, respiratory infections, and in many cases, pancreatic and digestive problems. Most children with cystic fibrosis are diagnosed by the age of two. And while the average life expectancy of those with the disease has risen dramatically in recent decades, it is still just 37 years.

That puts Mulligan squarely in the minority. The fact that she's a life-long athlete has probably helped slow the progression of her disease, since exercise promotes lung clearing. But genetics is also an important consideration.

The genetic changes that cause cystic fibrosis are remarkably common. An estimated one in 25 Caucasians carry an altered version of the cystic fibrosis gene, whose full name is the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Carriers with one mutant and one normal copy of the gene do not have disease symptoms, and may actually benefit from enhanced resistance to cholera and other diarrheal diseases - a possible reason why the mutant gene has not been eliminated by evolution.

People with two mutant copies of the CFTR gene get cystic fibrosis. There is one common mutation that, alone, accounts for the majority of cystic fibrosis cases. However, there are some 1,500 rarer known mutations, and a person can carry a combination of two different mutations - one inherited from the father, and one from the mother.

Despite a good understanding of the genetics and biology that cause cystic fibrosis, there is still no cure. Flatley Discovery Lab is hoping to change that, with the help of Tracy Mincer, an associate scientist at Woods Hole Oceanographic Institution.

Mincer has always been interested in how bacteria and other microbes use chemicals to attract and repel each other and, just generally, do what they need to do to survive. Early in his career, though, Mincer found a bacterially-produced chemical that has since been turned into an anti-cancer drug. He even saw that drug in action, extending the life of a family friend. That experience inspired him to continue working on biomedical applications for his ecological research. 

Mincer's research group has provided Flatley Discovery Lab with some 5,000 chemicals derived from marine bacteria. Four years of testing has turned up twenty prioritized hits - chemicals that affect the faulty protein in cystic fibrosis in a way that might be useful. Although Mincer acknowledges the formidable challenges involved in turning such chemicals into usable medicines, he says drug developers have gotten much better at weeding out dangerous or ineffective candidates early on. He's hopeful that we will have new treatments, maybe even a cure for cystic fibrosis, within a decade.

Mulligan is slightly more cautious. She says that she's seen significant advances in cystic fibrosis treatment, and that there are promising new drugs available. Most of those, understandably, are targeted for the most frequent form of the disease. People, like her, with less common genetic mutations, may have to exercise more patience. Still, Mulligan is currently taking part in a phase three clinical trial for a new treatment (Note: This trial is not related to Flatley Discovery Lab or Mincer's work.), and she says the pace of research makes this is an exciting time for anyone affected by cystic fibrosis.

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