News from CRG
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.
CRG press release
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].