Future directions in early cystic fibrosis lung disease research: An NHLBI workshop report

Bonnie W. Ramsey, Susan Banks-Schlegel, Frank J. Accurso, Richard C. Boucher, Garry R. Cutting, John F. Engelhardt, William B. Guggino, Christopher L. Karp, Michael R. Knowles, Jay K. Kolls, John J. LiPuma, Susan Lynch, Paul B. McCray, Ronald C. Rubenstein, Pradeep K. Singh, Eric Sorscher, Michael Welsh

Research output: Contribution to journalArticlepeer-review

65 Scopus citations


Since the 1989 discovery that mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause cystic fibrosis (CF), there has been substantial progress toward understanding the molecular basis for CF lung disease, leading to the discovery and development of new therapeutic approaches. However, the earliest impact of the loss of CFTR function on airway physiology and structure and its relationship to initial infection and inflammation are poorly understood. Universal newborn screening for CF in the United States represents an unprecedented opportunity for investigating CF clinical manifestations very early in life. Recently developed animal models with pulmonary phenotypic manifestations also provide a window into the early consequences of this genetic disorder. For these reasons, the National Heart, Lung, and Blood Institute (NHLBI) convened a working group of extramural experts, entitled "Future Research Directions in Early CF Lung Disease"on September 21-22, 2010, to identify future research directions of great promise in CF. The priority areas identified included (1) exploring pathogenic mechanisms of early CF lung disease; (2) leveraging newborn screening to elucidate the natural history of early lung disease; (3) developing a spectrum of biomarkers of early lung disease that reflects CF pathophysiology, clinical outcome, and response to treatment; (4) exploring the role of genetics/genomics (e.g., modifier genes, gene - environmental interactions, and epigenetics) in early CF pathogenesis; (5) defining early microbiological events in CF lung disease; and (6) elucidating the initial airway inflammatory, remodeling, and repair mechanisms in CF lung disease.

Original languageEnglish
Pages (from-to)887-892
Number of pages6
JournalAmerican journal of respiratory and critical care medicine
Issue number8
StatePublished - Apr 15 2012


  • Airway disease
  • Cystic fibrosis
  • Genetics
  • Innate immunity
  • Microbiology


Dive into the research topics of 'Future directions in early cystic fibrosis lung disease research: An NHLBI workshop report'. Together they form a unique fingerprint.

Cite this