A systematic review was performed (i) to describe the reported overall rate of progression of
CF lung disease quantified as FEV 1% predicted decline with age,(ii) to summarise …

In many respects, genetic studies in cystic fibrosis (CF) serve as a paradigm for a human
Mendelian genetic success story. From recognition of the condition as a heritable …

The identification of small molecules that target specific CFTR variants has ushered in a new
era of treatment for cystic fibrosis (CF), yet optimal, individualized treatment of CF will require …

A combined genome-wide association and linkage study was used to identify loci causing
variation in cystic fibrosis lung disease severity. We identified a significant association (P …

Rationale: The advent of precision treatment for cystic fibrosis using small-molecule
therapeutics has created a need to estimate potential clinical improvements attributable to …

Cystic fibrosis is realizing the promise of personalized medicine. Recent advances in drug
development that target the causal CFTR directly result in lung function improvement, but …

The existence of pleiotropy in disorders with multi-organ involvement can suggest
therapeutic targets that could ameliorate overall disease severity. Here we assessed …

Rationale: Lung disease is the major cause of morbidity and mortality in persons with cystic
fibrosis (pwCF). Variability in CF lung disease has substantial non-CFTR (CF …

Technological advances in genetics have made feasible and affordable large studies to
identify genetic variants that cause or modify a trait. Genetic studies have been carried out to …

Cystic fibrosis (CF), a lethal genetic disease, is characterized by substantial clinical
heterogeneity. Work over the past decade has established that much of the variation is …