One idea is to find an aerosol spray that could be used to bring treatments—either the normal CFTR protein or a drug that compensates for the faulty protein—right to the patient's lungs where they are most needed.

Two teams of researchers actually corrected the CF defect in a dish, by inserting normal genes into cells from CF patients. But treating patients proved more difficult.

Many technical hurdles remain before the normal gene or its protein can be used as an effective treatment for CF. Recent drug advances include the development of a mucus-thinning drug called Pulmozyme and the discovery that high doses of ibuprofen reduce the rate of lung inflammation in people with CF. Other drugs now being tried may help rid the airways of mucus or prevent its buildup. And some researchers are looking into the possibility of reactivating the mutant CFTR protein by making it refold properly, with the aid of small molecules.

"I think it's still an open question whether the drug therapy approach or the gene therapy approach—or some combination of the two—is the best way to make progress on this disease," says Collins. The answer may come from the various animal models of CF that have been developed, as many groups of researchers try to find a cure for the disease in animals.

— Maya Pines

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