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Source: Falling Walls Foundation

Groundbreaking achievements in cystic fibrosis therapy honored

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Professor Marcus Mall, Clinic Director of the Department of Pediatrics with a focus on Pneumology, Immunology, and Intensive Care Medicine at Charité - Universitätsmedizin Berlin, has been selected this year by the Falling Wall Foundation as a Global Winner in the Life Sciences category. The reason is his groundbreaking contributions to deciphering the underlying disease mechanisms in cystic fibrosis and developing a highly effective therapy. Mall is one of the founding directors of the DZL and a specialist in childhood pulmonary medicine.

Cystic fibrosis patients suffer from sticky mucus in their lungs that makes it difficult for them to breathe and provides an optimal breeding ground for chronic infections and inflammation. Over time, they destroy the lung tissue more and more, from which the patients ultimately die early.

The research impulse came in the year the Berlin Wall came down

"The underlying genetic defect was discovered in 1989 when the Berlin Wall fell. This gave hope that one day it would be possible to treat this devastating disease. That was my main motivation to get involved with cystic fibrosis," Mall said in a Falling Walls Foundation video. But before scientists could develop new therapies, they first had to understand how the genetic defect causes the disease.

Mall and his team found that the genetic change prevents an ion channel from forming correctly on the surface of cells. The ion channel affected is the cystic fibrosis transmembrane conductance regulator (CFTR). It is responsible for the transport of water and salt. If it is defective, a viscous mucus forms that clog the lungs' airways and internal organs such as the intestines. The high salt content in sweat is also characteristic of the disease.

Triple therapy improves lung function and quality of life

Building on their findings from basic research, Mall and his research team were instrumental in developing so-called small molecule CFTR modulators. They make it possible to treat the genetic defect in the CFTR ion channel, which is present in 90 percent of all patients with cystic fibrosis. In clinical trials, researchers have shown that patients' lung function and quality of life improve dramatically with a triple combination of these modulators.

The triple therapy is currently approved for children six years and older. As a result, the scientists are already working on the following challenges: "Cystic fibrosis is a hereditary disease that starts in infancy. So the question that keeps me up at night is how we can bring this breakthrough therapy to infants as quickly as possible and achieve optimal lifelong benefits for patients born with the disease today," Mall says. He and his team are also researching new therapies for the 10 percent of cystic fibrosis patients who cannot be helped with triple treatment because of a different genetic defect.

Source: Falling Walls Foundation

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