Worldwide 70,000 children and adults, including 30,000 in the United States, are living with cystic fibrosis, a recessive genetic disorder that affects the lungs and digestive system. Among them is the 32-year-old daughter of Jeffrey Wine, PhD, director of Stanford’s Cystic Fibrosis Research Laboratory.
Wine has firsthand knowledge about the cost of the disease and how conventional treatment approaches focus on addressing symptoms as they appear. He also understands how few drugs tackle the underlying problem of the disease, which is that a key protein known as cystic fibrosis transmembrane conductance regulator (CFTR) is broken, damaged or missing.
CFTR is responsible for transferring fluid and minerals in and out of cells, and defects among patients diagnosed with cystic fibrosis can vary greatly. A Stanford Report story published today explains how current tests fall short of precisely determining how much functioning CFTR is present and how Wine and colleagues developed a new sweat test that produces more detailed information than before. Becky Bach writes:
The new test determines the ratio between two types of sweat in each individual by using dyes to form bubbles on the skin. That ratio accounts for differences in sweat volume – between a conditioned athlete and a sedentary person, for example – and reveals an individual’s CFTR levels.
Wine’s work showed that even healthy people have varying levels of CFTR and that only a small amount of CFTR is needed to remain disease-free. “The biggest surprise for me was how small the response was. I don’t think anybody expected that,” Wine said.
Therefore, drug developers have a lower target: they only need to restore 10 percent of CFTR functionality to relieve symptoms. Also, patients can be treated with drugs that supplement their personal CFTR levels to relieve symptoms. That is particularly important because people with the same genetic flaw can have different amounts of CFTR, Wine said.
Previously: Film about twin sisters’ double lung transplants and battle against cystic fibrosis available online, Diverse microbes discovered in healthy lungs shed new light on cystic fibrosis and Living – and thriving – with cystic fibrosis
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