Toward the pharmacogenomics of cystic fibrosis - An update

Federica Sangiuolo, Maria Rosaria D'Apice, Stefano Gambardella, Nicola Di Daniele, Giuseppe Novelli

Research output: Contribution to journalArticlepeer-review


Cystic fibrosis (CF) is the most common autosomal recessive disorder in Caucasians, with a frequency of ∼ 1 in 3000 live births. The mutated gene is a defective chloride channel in epithelial cells, named cystic fibrosis transmembrane conductance regulator (CFTR). Several different protocols for the scanning of the entire gene have aided molecular diagnosis and improved our understanding of the disorder's pathophysiology, but also showed the disease's complexity. Therefore, CF phenotype remains difficult to predict from CFTR mutation data alone: several studies have suggested that additional genes could modulate its clinical outcome. Gene replacement therapy is still far from being used in patients with CF, mostly due to the difficulties with targeting the appropriate cells. In this review, we summarize recent advances, both in the pharmacological and gene therapy field, aimed for the treatment of the disease. 2004

Original languageEnglish
Pages (from-to)861-878
Number of pages18
Issue number7
Publication statusPublished - Oct 2004


  • Allelic heterogeneity
  • CFTR mutations
  • CFTR pathies
  • Cystic fibrosis
  • Gene therapy
  • Genotype-phenotype correlation
  • Modifier gene
  • Neonatal screening
  • Pharmacological approach

ASJC Scopus subject areas

  • Pharmacology
  • Genetics(clinical)

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