Cystic fibrosis, once a devastating and often fatal diagnosis, is no longer the death sentence it used to be. A revolutionary new treatment has dramatically improved patients’ ability to breathe and digest food, offering hope to thousands worldwide.
On Thursday, three scientists behind this clinical breakthrough — pulmonologist Michael Welsh and researchers Jesus Gonzalez and Paul Negulescu from Vertex Pharmaceuticals — received America’s most prestigious scientific honor, the Lasker Award. Often considered a precursor to the Nobel Prize, this recognition highlights their groundbreaking contributions.
From Fatal Illness to Manageable Condition
Reflecting on the impact of their work, Welsh told AFP:
“It’s unbelievable. It’s better than I ever hoped. You see these kids looking healthy, running around, playing. Then they grow up, get married, have children, and live their lives.”
As reported by barrons, this outcome stands in sharp contrast to the early years of Welsh’s career, when a cystic fibrosis diagnosis often meant death in childhood or adolescence. Today, thanks to treatments like Kaftrio (called Trikafta in the United States), many patients can lead normal, active lives.
Targeting the Root Cause
Unlike older therapies that only managed symptoms, Kaftrio/Trikafta addresses the underlying cause of cystic fibrosis. The inherited disease affects about 100,000 people globally, causing sticky mucus to clog the lungs, digestive tract, and other organs.
The breakthrough became possible after the 1989 discovery of the CFTR gene, whose mutation causes cystic fibrosis. Welsh and his colleagues then began investigating how the protein coded by this gene malfunctions.
Discovering the Protein Defects
Welsh identified two major problems caused by the most common mutation:
- The CFTR protein becomes trapped inside the cell.
- The protein that does reach the cell surface works poorly.
Experiments revealed that lowering temperature could free the trapped protein. This insight showed that the protein was not completely defective — and therefore could potentially be rescued.
High-Speed Drug Discovery
Armed with these findings, the Cystic Fibrosis Foundation approached Gonzalez and Negulescu to search for chemical compounds that could correct the defects. When gene therapy approaches failed to deliver results, the researchers turned to drug discovery.
Gonzalez pioneered a dye-based screening technique that allowed rapid testing of thousands of compounds. Negulescu likened the process to “panning for gold.” Their persistence paid off when they identified molecules that freed the protein and improved its function.
Kaftrio/Trikafta: A Game-Changer
These discoveries led to the creation of a new class of cystic fibrosis therapies, with Kaftrio/Trikafta as the flagship drug. Approved in the United States in 2019, it was added to the WHO’s essential medicines list in 2025.
However, challenges remain. The treatment is lifelong and expensive, putting it out of reach for some patients. It is also ineffective for a small percentage of individuals with rare mutations.
The Work Continues
Despite the remarkable progress, Negulescu emphasizes that the mission is not over:
“The work is not done.”
Researchers continue striving for broader, more affordable solutions — with the ultimate goal of curing cystic fibrosis for every patient.