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 …

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 …

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

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

Chronic pancreatitis is defined as a pathological fibro-inflammatory syndrome of the
pancreas in individuals with genetic, environmental and/or other risk factors who develop …

Specialised CF care has led to a dramatic improvement in survival in CF: in the last four
decades, well above what was seen in the general population over the same period. With …

Allelic heterogeneity in disease-causing genes presents a substantial challenge to the
translation of genomic variation into clinical practice. Few of the almost 2,000 variants in the …

Infertility is a widespread problem and a male contribution is involved in 20–70% of affected
couples. As a man's fertility relies on the quantity and quality of his sperm, semen analysis is …

Cystic fibrosis (CF), a monogenic disease caused by mutations in the CFTR gene on
chromosome 7, is complex and greatly variable in clinical expression. Airways, pancreas …

Abstract Background Ivacaftor (KALYDECO™, VX-770) is a CFTR potentiator that increased
CFTR channel activity and improved lung function in patients age 6 years and older with CF …