Using the genome to correct the ion transport defect in cystic fibrosis.

Abstract

Today, biomedicine faces one of its greatest challenges, i.e. treating diseases through their causative dysfunctional processes and not just their symptoms. However, we still miss a global view of the mechanisms and pathways involved in the pathophysiology of most diseases. In fact, disease mechanisms and pathways can be achieved by holistic studies provided by 'omic' approaches. Cystic fibrosis (CF), caused by mutations in the CF transmembrane conductance regulator (CFTR) gene which encodes an anion channel, is paradigmatic for monogenic disorders, namely channelopathies. A high number of 'omics studies' have focused on CF; namely, several cell-based high-throughput approaches were developed and applied towards a global mechanistic characterization of CF pathophysiology and the identification of novel and 'unbiased' drug targets. Notwithstanding, it is likely that, through the integration of all these 'layers' of large datasets into comprehensive disease maps, biological significance can be extracted so that the enormous potential of these approaches to identifying dysfunctional mechanisms and novel drugs may become a reality.