Cystic Fibrosis is caused by mutations in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene resulting in abnormal protein function. Recent advances of targeted molecular therapies and high throughput screening have resulted in multiple drug therapies that target…
October 2015
The Remaining Barriers to Normalcy in Cystic Fibrosis I
Personalized medicine for cystic fibrosis: Establishing human model systems
With over 1,500 identifiable mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that result in distinct functional and phenotypical abnormalities, it is virtually impossible to perform randomized clinical trials to identify the best therapeutics for all…
CFTR, bicarbonate, and the pathophysiology of cystic fibrosis
The gene that encodes for the cystic fibrosis transmembrane regulator protein (CFTR) was identified in 1989, yet major pathophysiologic questions remain unanswered. There is emerging evidence that CFTR is a bicarbonate channel, a driver of chloride‐bicarbonate exchange and…
Cystic fibrosis lung microbiome: Opportunities to reconsider management of airway infection
The importance of infection in the pathogenesis of cystic fibrosis (CF) lung disease has been long recognized, and the use of antibiotics targeting bacteria identified in cultures of respiratory specimens has played a critical role in improving outcomes…
Inflammation and its genesis in cystic fibrosis
The host inflammatory response in cystic fibrosis (CF) lung disease has long been recognized as a central pathological feature and an important therapeutic target. Indeed, many believe that bronchiectasis results largely from the oxidative and proteolytic damage comprised…
Respiratory tract exacerbations revisited: Ventilation, inflammation, perfusion, and structure (VIPS) monitoring to redefine treatment
For cystic fibrosis (CF) patients older than 6 years there are convincing data that suggest respiratory tract exacerbations (RTE) play an important role in the progressive loss of functional lung tissue. There is a poor understanding of the…
Improving complex medical care while awaiting next‐generation CFTR potentiators and correctors: The current pipeline of therapeutics
While a major target in cystic fibrosis (CF) research in recent years has been the development of corrector and potentiator drugs targeting the cystic fibrosis transmembrane conductance regulator (CFTR) protein, these therapies have not yet proven robust enough…
Tackling the increasing complexity of CF care
Health outcomes for individuals with cystic fibrosis (CF) have dramatically improved in parallel with better organization of clinical care systems, evolution of novel therapeutics, and improvements in diagnosis and screening for CF and CF‐related complications. In parallel with…