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
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Keywords
- splicing
- RNA
- genetic diseases
- functional genomics
- next-generation sequencing
- therapeutic approaches
