Executive summary The past six decades have seen remarkable improvements in health
outcomes for people with cystic fibrosis, which was once a fatal disease of infants and young …

Cystic fibrosis (CF) is a lethal inherited disease caused by mutations in the CF
transmembrane conductance regulator (CFTR) gene, which result in impairment of CFTR …

Significant advances in the management of cystic fibrosis (CF) in recent decades have
dramatically changed the epidemiology and prognosis of this serious disease, which is no …

Pseudomonas aeruginosa is an important Gram-negative opportunistic pathogen which
causes many severe acute and chronic infections with high morbidity, and mortality rates as …

Objective Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance
regulator (CFTR) gene, continues to present diagnostic challenges. Newborn screening and …

Thirty years on from the launch of the Human Genome Project, Richard Gibbs reflects on the
promises that this voyage of discovery bore. Its success should be measured by how this …

The cystic fibrosis transmembrane conductance regulator (CFTR) is an anion channel that
regulates salt and fluid homeostasis across epithelial membranes. Alterations in CFTR …

The cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-binding
cassette (ABC) transporter that uniquely functions as an ion channel. Here, we present a 3.9 …

Bronchiectasis is characterised by pathological dilation of the airways. More specifically, the
radiographic demonstration of airway enlargement is the common feature of a …

The availability of the human genome sequence and tools for interrogating individual
genomes provide an unprecedented opportunity to apply genetics to medicine. Mendelian …