Cystic fibrosis remains one of the most common fatal genetic diseases, as well as the most common fatal hereditary lung disease worldwide. In recent years, medical scientists have made intensified attempts at understanding the disease mechanism at the core of cystic fibrosis, namely the defect in the CFTR protein. In this regard, Marcus Mall and his team have made groundbreaking contributions. A specialist in paediatric pulmonology and physician-scientist, Mall is the Director at the Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine at Charité – Universitätsmedizin Berlin. He led the first clinical trial that demonstrated that a combination therapy of three small molecules leads to unprecedented improvement in lung function in patients affected by cystic fibrosis. At Falling Walls, Mall discusses how he and his team contributed to unraveling of disease mechanisms underlying cystic fibrosis and how the development of a highly effective therapy that restores function of the CFTR protein can improve the quality of life in the majority of patients with this devastating disease.
Falling Walls
Falling Walls Science Summit 2022
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Cystic Fibrosis: Breaking the Wall to Treating Rare Genetic Diseases
Professor Marcus Mall is chair of the Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine at Charité-Universitätsmedizin Berlin, Germany. He is a physician-scientist and specialist in pediatric pulmonology and one of the founding directors of the German Center for Lung Research (DZL). His research focusses on cystic fibrosis, which to date remains the most common fatal hereditary lung disease worldwide, where he has made groundbreaking contributions to unraveling the underlying cause of disease and the development of the first highly effective therapy that tackles cystic fibrosis at its root cause.
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