Future Directions in Early Cystic Fibrosis Lung Disease Research: An NHLBI Workshop Report
Year: 2012
Type: article
Abstract: 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.
Authors: 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
Institutions: University of Washington, Seattle Children's Research Institute, National Institutes of Health, National Heart, Lung, and Blood Institute, University of Colorado Anschutz, University of Colorado Denver, University of North Carolina at Chapel Hill, Johns Hopkins University, University of Iowa, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Louisiana State University, Louisiana State University Health Sciences Center New Orleans, University of Michigan, University of California, San Francisco, University of Iowa Stead Family Children’s Hospital, Children's Hospital of Philadelphia, University of Pennsylvania, University of Alabama at Birmingham, UAB Medicine, Howard Hughes Medical Institute
Language: English
Subfield: Pulmonary and Respiratory Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: U.S. Department of Health and Human Services, Children's Hospital of Philadelphia, University of Pennsylvania, University of Washington, Johns Hopkins University, Louisiana State University, Seattle Children's Research Institute, Children’s Hospital of Wisconsin Research Institute, National Institutes of Health, University of North Carolina at Chapel Hill, Perelman School of Medicine, University of Pennsylvania, University at Buffalo, National Heart, Lung, and Blood Institute, National Institute of Diabetes and Digestive and Kidney Diseases, University of Colorado School of Medicine, Anschutz Medical Campus
OpenAlex ID: W2028341547