Alternative Splicing in Genetic Disorders and Cancer

Dear Colleagues,

Alternative splicing is a fundamental post-transcriptional mechanism that significantly enhances proteomic diversity in eukaryotic organisms. Through the selective inclusion or exclusion of exons, a single gene can generate multiple mRNA transcripts and protein isoforms with distinct—sometimes opposing—functions. Increasing evidence demonstrates that its dysregulation is not merely a consequence of disease, but a fundamental driver of inherited genetic disorders and cancer.

Mutations affecting splice sites, splicing regulatory elements, or components of the spliceosome can lead to alterations in transcript structure, protein function, and cellular homeostasis.

This Special Issue, entitled “Alternative Splicing in Genetic Disorders and Cancer”, aims to collect original articles and reviews on the latest advances in alternative splicing mechanisms in rare and common genetic diseases, neurodevelopmental disorders, and cancer. Particular emphasis is placed on emerging technologies and therapeutic strategies to restore aberrant splicing. Contributions focusing on antisense oligonucleotides, small-molecule splicing modulators, and cancer-specific splice isoforms as biomarkers or immunotherapy targets are welcome.

By fostering interdisciplinary dialogue and bringing together research, this issue seeks to establish alternative splicing at the forefront of molecular medicine and precision oncology.

Dr. Giuseppina Covello
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 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. 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.