Flash back to 1993 ... I was one of a few high school seniors in the first-ever class of the Cotter Schools Academy of Math and Science in Winona. Human genetics was my particular fascination. Just four years before, scientists had made an unprecedented discovery: For the first time, a gene that causes a human disease had been discovered without the help of any prior clues to its whereabouts. Although we were just kids, we were also budding scientists. We couldn't help but get swept up in the buzz about the implications of this discovery. With the advent of gene therapy, this disease - cystic fibrosis (CF) - could now be cured. We were sure of it.
Fast forward to today ... Turns out, a cure for CF never did materialize the way we had predicted. It took 23 years for scientists to learn enough about the CF gene and its particular quirks to yield an FDA-approved drug that specifically targets the faulty gene product. But that drug, initially approved in 2012, can only help about 8% of CF patients in the US. You see, nearly 2000 variations in the CF gene sequence have been identified. Granted, some of these are much more common than others, and there is some overlap in faulty behaviors exhibited by the gene product because of these variations. But, as is often the case in science, the problem was much more difficult than it appeared.
Last year, the FDA approved a new drug combination that can help about one-third of CF patients. While these drugs are welcome advances, they are not a cure. In clinical trials, the drug combination approved last year improved one measurement of lung function by only 3-4% on average, and the rate of acute lung problems was reduced by about one-third. Scientists are on the right track, but they have a lot of territory left to cover.
As a scientist and clinical researcher, I remain fascinated by CF, and I've never forgotten the excitement I felt as a high school student in the wake of the discovery of the CF gene. But now it's also personal. On May 22nd, we'll participate in Great Strides St. Paul, walking in support of Anna's friend Mason to raise money for the Cystic Fibrosis Foundation and its commitment to finding a cure. Nearly every CF drug available today was made possible because of the Cystic Fibrosis Foundation's support. Please join us in making a donation to help sustain their support of life-saving research.