Copyright
©The Author(s) 2017. Published by Baishideng Publishing Group Inc. All rights reserved.
New era of cystic fibrosis: Full mutational analysis and personalized therapy
Marco Lucarelli, Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Laboratory affiliated to Istituto Pasteur Italia - Fondazione Cenci Bolognetti, 00161 Rome, Italy
Author contributions: Lucarelli M conceived the editorial, revised the literature and wrote the paper.
Conflict-of-interest statement: Marco Lucarelli declares no conflict of interest related to the editorial.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Marco Lucarelli, Associate Professor, BS Specialist in Clinical Pathology, Department of Cellular Biotechnologies and Hematology, Sapienza University of Rome, Laboratory affiliated to Istituto Pasteur Italia - Fondazione Cenci Bolognetti, Viale Regina Elena 324, 00161 Rome, Italy. marco.lucarelli@uniroma1.it
Received: October 6, 2016
Peer-review started: October 7, 2016
First decision: November 15, 2016
Revised: January 26, 2017
Accepted: February 20, 2017
Article in press: February 21, 2017
Published online: February 27, 2017
Peer-review started: October 7, 2016
First decision: November 15, 2016
Revised: January 26, 2017
Accepted: February 20, 2017
Article in press: February 21, 2017
Published online: February 27, 2017
Core Tip
Core tip: Cystic fibrosis (CF) is the most common severe monogenic disease of Caucasian population. Despite its apparently simple genetics, it has a complex genotype - phenotype relationship. This is mainly due to the high number of mutations of the causing gene (the CFTR) and to the complexity of the CFTR cellular network. The next generation sequencing approach allows a full genetic characterization of the CFTR and CFTR network improving our diagnostic, prognostic and therapeutic ability. This is coupled to the availability of drugs acting on specific mutational classes. The synergy between massive sequencing and personalized therapy is expected to produce an unparalleled advantage for CF patients.