After a series of breakthroughs that researcher Steven Rowe calls "one of the most remarkable stories in modern medicine," the majority of patients with cystic fibrosis can now be treated with highly effective therapies. The next step: adapting these treatments to COPD, asthma and a host of other conditions.
The "high-risk" decision to focus on fixing CFTR proteins, rather than the CFTR gene itself, has brought major improvements in lung function and quality of life.
Readthrough drugs, first proposed by UAB researchers in the 1990s, are already helping patients with some genetic diseases caused by nonsense mutations. They could eventually help millions worldwide.
For many patients with rare mutations, conventional clinical trials are rarely an option. But UAB researchers are creating tests using patients' own cells that could give their doctors insight on how they would respond to new therapies.
Ivacaftor, a drug that has seen remarkable success in cystic fibrosis, could be a treatment for chronic bronchitis, a disease caused largely by smoking that affects millions in the United States.
microOCT imaging, a joint invention of UAB researchers and investigators at Harvard Medical School, "lets us see things no one has ever seen before."