Scientists Awarded Top US Prize for Breakthrough Cystic Fibrosis Treatment

In a significant medical advancement, the researchers behind a groundbreaking treatment for cystic fibrosis have received one of America's most prestigious scientific honors, the Lasker Prize. This recognition highlights their pivotal role in transforming the outlook for individuals living with this inherited disease, which was once considered a near-certain death sentence.

Cystic fibrosis, affecting approximately 100,000 people worldwide, causes sticky mucus buildup in the lungs and digestive system, leading to severe health complications. The disease results from mutations in the CFTR gene, discovered in 1989, which prompted researchers like pulmonologist Michael Welsh to explore the underlying mechanisms of the mutation.

Welsh and his colleagues identified that the most common mutation caused the CFTR protein to become trapped inside cells or function improperly. Their experiments revealed that lowering temperature could free the trapped protein, showing it was not entirely broken, which was a hopeful discovery. This insight led to the development of drugs that could correct the protein’s malfunction.

The American Cystic Fibrosis Foundation collaborated with scientists Jesus Gonzalez and Paul Negulescu, who developed techniques to screen thousands of compounds quickly. Their perseverance led to the discovery of molecules capable of restoring the damaged CFTR protein's movement and function. A notable resulting drug, Kaftrio (known as Trikafta in the US), approved in 2019 and designated as an essential medicine in 2025, represents this class of treatments.

Despite the drug's success, challenges remain, including high costs and limited efficacy in patients with different mutations. Still, the researchers’ work marks a revolutionary step forward, providing new hope for those affected by cystic fibrosis.

Michael Welsh expressed his awe at the progress, mentioning how patients now can lead healthier, more active lives, with some even getting married and having children, a stark contrast to earlier days when the disease was often fatal in childhood.

This award underscores the critical importance of understanding genetic and molecular mechanisms in developing effective therapies, and it signifies a major milestone in the quest to combat cystic fibrosis. The scientific community and patient advocacy groups celebrate this achievement as an exciting milestone on the path toward more comprehensive treatments.

Source: https://medicalxpress.com/news/2025-09-scientists-breakthrough-cystic-fibrosis-treatment.html