Future Directions in Early Cystic Fibrosis Lung Disease Research: An NHLBI Workshop Report
| Autor: | Richard C. Boucher, Christopher L. Karp, Frank J. Accurso, Pradeep K. Singh, William B. Guggino, Michael J. Welsh, John J. LiPuma, John F. Engelhardt, Susan Banks-Schlegel, Eric J. Sorscher, Paul B. McCray, Michael R. Knowles, Jay K. Kolls, Bonnie W. Ramsey, Ronald C. Rubenstein, Garry R. Cutting, Susan V. Lynch |
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| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
Lung Diseases
Male Pulmonary and Respiratory Medicine medicine.medical_specialty Cystic Fibrosis Cystic Fibrosis Transmembrane Conductance Regulator Critical Care and Intensive Care Medicine Risk Assessment Severity of Illness Index Cystic fibrosis Education Age Distribution Child Development Neonatal Screening Prevalence medicine Humans Age of Onset Sex Distribution Child Intensive care medicine Newborn screening Lung biology Extramural business.industry Research Infant Newborn Genetic disorder Infant respiratory system Prognosis medicine.disease United States Cystic fibrosis transmembrane conductance regulator medicine.anatomical_structure Lung disease Child Preschool Disease Progression biology.protein Female NHLBI Workshop Age of onset business Forecasting |
| DOI: | 10.17615/5b7f-j030 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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