The Shaw Prize in Life Science and Medicine 2022 is awarded in equal shares to Paul A Negulescu, Senior Vice President and Site Head, San Diego Research, Vertex Pharmaceuticals Incorporated, USA and Michael J Welsh, Professor of Internal Medicine – Pulmonary, Critical Care and Occupational Medicine, Professor of Neurosurgery, Neurology, Molecular Physiology and Biophysics and Director of Pappajohn Biomedical Institute, University of Iowa, USA for landmark discoveries of the molecular, biochemical, and functional defects underlying cystic fibrosis and the identification and development of medicines that reverse those defects and can treat most people affected by this disorder. Together, these discoveries and medicines are alleviating human suffering and saving lives.
Cystic fibrosis (CF) is one of the most common, severe single-gene disorders, affecting more than 80,000 people globally. The single gene in which the disease-causing mutations fall is called CFTR (Cystic Fibrosis Transmembrane Conductance Regulator). The CFTR protein ensures the proper flow of chloride, a component of salt, that is present in secreted body fluids such as sweat, saliva and mucus. These fluids keep cells lubricated and are thus vital for the proper function of organs. In CF patients, these secretions become thick and sticky and, rather than acting as lubricants, clog passageways, especially in the lungs. The disease is fatal. There are many different mutations in CFTR that cause the disease, but a mutation called F508del is particularly important, and is present in about 90% of patients.