In 1989, nearly 30,000 children and young adults in the United Stated suffered from cystic fibrosis, a genetic disease that can damage the lungs, digestive system and other organs. At the time, only half of those with cystic fibrosis were expected to live past their mid-20s.
In May of that year, however, geneticist-physician Francis Collins and his research team at the University of Michigan, along with Lap-Chee Tsui and his team from the Hospital for Sick Children in Toronto, revealed that they’d isolated the gene for cystic fibrosis and identified a faulty protein the gene produced that they believed was responsible for the development of the disease.
The breakthrough was so revolutionary, news of it leaked before the findings could be published in the academic journal Science. As a result, Collins and Tsui announced at press conferences in August 1989 what they’d discovered.
Collins and his colleagues suggested that the discovery of the gene might enable more accurate prenatal diagnosis of cystic fibrosis, as well as help parents learn if they carried the gene for the disease. They also speculated that the breakthrough might lead to new and better ways to mitigate the effects of cystic fibrosis — or even cure it.
The discovery was part of Collins and Tsui’s broader project, known as “positional cloning,” which sought to identify disease genes. Identifying the gene, now known as the cystic fibrosis transmembrane conductance regulator, or CFTR, took Collins and his colleagues eight years, and it was the project’s first major breakthrough.
The discovery paved the way for the research field known today as gene therapy, and over the ensuing decades, more than 2,000 different mutations of the CFTR gene have been found. While there is still no cure for cystic fibrosis, the findings have helped develop new treatments and medications for those afflicted, improving their quality of life and extending their life expectancy.
In a 2021 interview, Collins described the moment in 1989, when he and Tsui realized what they’d discovered. It was, he said, “like a glimpse of God’s mind, that we have understood something that God already knew.”
After the CFTR discovery, Collins went on to oversee the Human Genome Project, which sought to map and sequence human DNA. The project took 15 years, and its findings were combined in 2001 with a separate, privately funded Human Genome Project led by J. Craig Venter of Celera Genomics. Their collective work paved the way for a new approach to analyzing human disease. Collins was director of the National Institutes of Health from 2009 to 2021, serving under three U.S. presidents.
