RNA Splicing in Health and Disease
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".
Deadline for manuscript submissions: closed (5 December 2023) | Viewed by 2532
Special Issue Editor
Special Issue Information
Dear Colleagues,
Large numbers of splicing-related diseases have been documented; however, this number is likely to be substantially underestimated because the effects of mutations on splicing are often not pursued as a primary cause of disease.
In fact, hundreds of thousands of DNA variants are detected in massive sequencing projects of genetic disorders, and interestingly, recent estimations have shown that an unexpectedly large fraction of genetic diseases are caused by variants that disrupt the splicing process. Although the classification of variants located within many canonical splice sites is often straightforward due to clear biological consequences, it is important to identify and functionally study the impact on splicing of sequence variants outside the canonical splice sites.
Moreover, the modulation of splicing provides a potent therapeutic approach. In recent years, there has been emergence in RNA therapeutics to directly target specific RNA molecules, but there are still many challenges that arise, such as the efficacy and delivery method for oligonucleotide-based therapies. Future works that aim to address these hurdles will help to advance the potential of RNA-based therapies. In particular, this Special Issue focuses on the impact of RNA splicing in health and disease and the new therapies that are emerging to modulate it.
Dr. Olatz Villate
Guest Editor
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 100 words) can be sent to the Editorial Office for announcement on this website.
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-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes 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.
Keywords
- splicing
- RNA
- genetic diseases
- functional genomics
- next-generation sequencing
- therapeutic approaches