Repeat Expansion Diseases: From Molecular Mechanisms to Emerging Therapies
A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Cellular Pathology".
Deadline for manuscript submissions: 30 September 2026 | Viewed by 186
Editors
2. Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience Maurice Wohl Clinical Neuroscience Institute King's College London. 5 Cutcombe Road, London SE5 9RX, UK
Interests: mechanisms of neurodegeneration; mitochondria-associated membranes; autophagy; motor neurone disease
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
Repeat expansion diseases constitute a growing and rapidly evolving field of biomedical research. These disorders are caused by the abnormal expansion of short tandem repeats in the genome, which can disrupt gene expression and cellular function through a variety of mechanisms, including loss of gene function, toxic RNA gain-of-function, the production of aberrant or aggregation-prone proteins, repeat-associated non-AUG (RAN) translation, and epigenetic alterations.
These abnormal repeat expansions are implicated in a wide range of severe neurological and neuromuscular disorders, including major conditions such as Huntington’s disease and C9orf72-associated ALS/FTD, highlighting their significant impact on human health. Emerging evidence also suggests that they may contribute to the pathogenesis of other common neurodegenerative disorders, including Alzheimer’s disease.
Advances in genomic technologies, particularly long-read sequencing, have transformed the detection and characterization of repeat expansions, enabling the discovery of novel loci and deeper insights into their pathogenic mechanisms. At the same time, emerging mechanistic studies are revealing new aspects of repeat-mediated toxicity, while innovative therapeutic strategies, including gene editing, antisense oligonucleotides, and RNA-targeting approaches, are being actively developed. Together, these advances are transforming our understanding of repeat expansion disorders and opening up new avenues for diagnosis and treatment.
This Special Issue will highlight recent discoveries and technological developments in the field of repeat expansion diseases, focusing on the following fields of study:
- Molecular and cellular mechanisms underlying repeat expansion-mediated toxicity;
- Development of therapeutic strategies targeting repeat expansions, including antisense therapies, genome editing, and RNA-targeting approaches;
- Genomic and technological advances in the detection and characterization of repeat expansions, particularly long-read sequencing and emerging analytical approaches.
Dr. Patricia Gómez-Suaga
Dr. Naomi Hartopp
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 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. Cells is an international peer-reviewed open access semimonthly 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 2700 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
- repeat expansion disease
- short tandem repeats
- pathogenic mechanisms
- long-read sequencing
- therapeutic strategies
Benefits of Publishing in a Special Issue
- Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
- Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
- Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
- External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
- Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.
Further information on MDPI's Special Issue policies can be found here.
