Associations between “salty” sweat and early mortality can be found in the scientific literature dating back to the 17th century , hundreds of years before a comprehensive medical description of cystic fibrosis (CF) . Insightful observation of excessive dehydration and deaths among children during a 1948 New York City heat wave suggested that salt homeostasis was a fundamental cellular problem in CF , with identification of supranormal sweat chloride concentrations remaining fundamental to the diagnosis of CF today. Since identification of the mutated gene associated with CF (the cystic fibrosis transmembrane conductance regulator; CFTR) , pieces of the CF puzzle seem to have, for the most part, fallen into place. Continue reading Steps in the Journey: CFTR mutation to sweat chloride concentration to survival
ProQR Completes Dosing of Cystic Fibrosis Patients in QR-010 Phase 1b Trial
• Last patient received their final dose in the PQ-010-001 Phase 1b clinical trial of QR-010 in CF patients with the F508del mutation.
Top-line trial data are expected to be issued in a press release Continue reading Phase 1b Trial of QR-010
The research is one of a number of studies that have used stem cells – the body’s master cells – to grow ‘organoids’, 3D clusters of cells that mimic the behaviour and function of specific organs within the body. Other recent examples have been ‘mini-brains’ to study Alzheimer’s disease and Continue reading Scientists grow ‘mini-lungs’ to aid the study of cystic fibrosis