Cystic Fibrosis: Diagnosis, Treatment, and Related Disorders

Dear Colleagues,

Over the last decade, major clinical advances have been achieved in delaying cystic fibrosis (CF) progress with the implementation of newborn screening programs and development of novel therapies, including CFTR modulator drugs.

CF-causing mutations can promote pleiotropic defects on the CF transmembrane conductance regulator (CFTR) protein, thus affecting its expression, trafficking, function, stability, or a combination thereof. Accordingly, a combination of CFTR modulator drugs is needed to most disease-associated CFTR variants in order to repair trafficking and functional defects at therapeutically relevant levels. Nevertheless, not all CF-causing mutations are responsive to the clinically available CFTR modulator drugs. Development of CFTR-directed therapies should also aim for rare mutations identified in a minority non-Caucasian population. Furthermore, a number of modifier genes and epigenetic factors have been associated with the individual responsiveness of these new drugs and with the potential development of comorbidities with disease progression. Assessment of CFTR function and response to modulator drugs in CF carriers who present with CFTR-related disorders is warranted.

Many novel assays and models have emerged to better understand the genotype–phenotype relationship and to predict drug effectiveness in a personalized medicine approach. In parallel, mutation-agnostic therapies (i.e., independent of CFTR mutation) are under development. These include cell-based and gene-based therapies, ENaC inhibitors, modulators of alternative chloride channels, small artificial transmembrane anion transporters (anionophores), as well as symptomatic therapies, such as novel anti-inflammatory drugs, antibiotics, and mucolytics.

This Special Issue on “Cystic Fibrosis” aims to gather a collection of reviews and original articles focused on “Diagnosis, Treatment, and Related Disorders” to this disease at basic, translational, and clinical levels to provide expert insights and perspectives on advances in the field.

Dr. Miquéias Lopes-Pacheco
Dr. Neeraj Sharma
Dr. Shafagh Waters
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Personalized Medicine is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.