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

Am J Respir Crit Care Med. 2012 Apr 15;185(8):887-92. doi: 10.1164/rccm.201111-2068WS. Epub 2012 Feb 3.

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.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Age Distribution
  • Age of Onset
  • Child
  • Child Development / physiology
  • Child, Preschool
  • Cystic Fibrosis / diagnosis*
  • Cystic Fibrosis / epidemiology*
  • Cystic Fibrosis / genetics
  • Cystic Fibrosis / therapy
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Disease Progression
  • Education
  • Female
  • Forecasting
  • Humans
  • Infant
  • Infant, Newborn
  • Lung Diseases / epidemiology*
  • Lung Diseases / genetics
  • Lung Diseases / physiopathology
  • Male
  • Neonatal Screening / methods
  • Prevalence
  • Prognosis
  • Research / standards
  • Research / trends*
  • Risk Assessment
  • Severity of Illness Index
  • Sex Distribution
  • United States

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator