PRESS RELEASE

NEW BREAKTHROUGH IN THE MOLECULAR ANALYSIS OF CYSTIC FIBROSIS

Researchers from the Centre for Genomic Regulation (CRG), Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), and Quantitative Genomic Medicine Laboratories, Ltd (qGenomics) have developed a next-generation sequencing assay for the complete molecular diagnostics of cystic fibrosis
The results of this investigation are published in the current issue of the Journal of Medical Genetics

Cystic fibrosis (CF) is one of the most common, life-threatening, autosomal recessive genetic disorders, with a carrier frequency in the Caucasian population of around one in 25 people. Mutations in the CF transmembrane conductance regulator (CFTR) gene determine the impairment of chloride transport in epithelial cells. The disease affects the lungs, digestive tract, sweat glands and reproductive tract in men. Since the characterization of CFTR more than 20 years ago, nearly 2000 pathogenic CFTR mutations have been reported. Although CFTR is one of the most extensively studied human disease genes, its high allelic heterogeneity makes the molecular diagnostics challenging.
The study describes that for genetic diseases like cystic fibrosis, the application of the new technologies of sequencing nucleic acids, known as next generation sequencing (NGS), in combination with robust bioinformatics algorithms, achieves a complete characterization of all types of mutations, changing the paradigms of classical molecular studies. This means accurate, fast and cheap characterization of genes responsible for specific genetic diseases.
After the tremendous impact of NGS technologies to research and discovery of disease-causing genes, we are now moving towards the introduction of these technologies for clinical applications. The investigators have combined target enrichment of the CFTR gene, NGS and sophisticated bioinformatics analysis to develop an assay able to completely screen CFTR simultaneously in 92 cystic fibrosis patients, and CFTR-related disorder patients. This approach was able identify all types of mutations, including large and complex rearrangements (122 CFTR mutations), and polymorphic variants, with a diagnostic rate of 99%. This is the most sensitive, specific and scalable method applied to the clinical setting, and should be easily adopted by routine molecular diagnostics laboratories. The study represents a major step towards the translation of NGS technologies and bioinformatics to medical diagnosis. 
The work was carried out in collaboration between Centre for Genomics Regulation (CRG) with the Institut d’Investigació Biomèdica de Bellvitge (IDIBELL) and qGenomics, and was directed by Xavier Estivill (CRG) and Teresa Casals (IDIBELL). CFTR analysis (capture and sequencing) is offered through qGenomics.
 
Reference work: Trujillano D, Ramos MD, González J, Tornador C, Sotillo F, Escaramis G, Ossowski S, Armengol L, Casals T, Estivill X. Next Generation Diagnostics of Cystic Fibrosis and CFTR-related disorders by Targeted Multiplex High-Coverage Resequencing of CFTR. J Med Genet 2013 May 17 [Epub ahead of print].
Acknowledgements: Generalitat de Catalunya, Spanish Government, European Commission and Associació Catalana de FQ.