Once deadly, cystic fibrosis now treatable with breakthrough therapy

Three scientists behind cystic fibrosis breakthrough win Lasker prize, often seen as precursor to Nobel

Cystic fibrosis was once a dire, likely deadly diagnosis, destroying a patient’s ability to breathe and digest food — but a revolutionary new treatment offers reason for hope.

And on Thursday the three scientists who developed the clinical advance were awarded America’s most prestigious scientific award, taking home the Lasker prize.

The top honor is frequently cited as a pre-cursor for a potential Nobel, and this year it recognized the pulmonologist Michael Welsh along with researchers Jesus Gonzalez and Paul Negulescu from the US laboratory Vertex.

Their research has shed light on the causes of the disease and given rise to a new class of innovative drugs, including the flagship treatment Kaftrio — known as Trikafta in the United States — which are capable of stabilizing the otherwise debilitating condition.

“It’s unbelievable. It’s better than I ever hoped,” Welsh told AFP. “You see these kids and they look healthy and they’re not coughing. They’re running around and playing.”

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“I almost can’t believe it. Then they go, and they’re getting married and they’re having kids, and they’re getting on with their lives.”

That reality stands in sharp contrast to Welsh’s memories from the early days of his career, when a cystic fibrosis diagnosis was a likely death sentence in childhood or adolescence.

The new award-winning treatment has been hailed as “revolutionary” by patient advocacy organizations.

It works by addressing the underlying causes of the inherited disease — which wreaks havoc on the lungs and digestive system — rather than its symptoms.

‘Not totally broken’

Some 100,000 people worldwide are estimated to suffer from cystic fibrosis, in which sticky mucus builds up in the lungs, digestive tract and other parts of the body.

After the 1989 discovery of the CFTR gene — whose mutation was identified as the cause of the disease — Welsh began dissecting the problem with fellow researchers.

“We thought, if we understand how CFTR works, we have a chance of fixing it,” he said.

Gaining a better understanding of how the protein that the gene codes for led the pulmonologist down a path seeking how genetic mutations impaired its function.