‘Rare Syndromes: Diagnosis and Treatment’ in 2024–2026
A special issue of Diseases (ISSN 2079-9721). This special issue belongs to the section "Rare Syndrome".
Deadline for manuscript submissions: 1 August 2025
Special Issue Editors
Interests: epigenetics; DNA methylation; transcriptional control; gene regulation; drug repurposing; neural stem cells; neurodevelopmental disorders; medulloblastoma brain tumor
Special Issues, Collections and Topics in MDPI journals
Interests: rare diseases; mitochondrial diseases; lysosome diseases; neurodegeneration with brain iron accumulation; neurodevelopmental disorders; congenital myopathies; genetic susceptibility to cancer
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
This Special Issue, related to rare syndromes, provides an open platform for research into all aspects of diseases considered as rare according to US or EU parameters. The goal is to provide an open platform for all health professionals to share knowledge, providing a better understanding of their etiology, prevention, pathogenic mechanisms and clinical aspects. Accordingly, this could improve the treatment and management of patients suffering from a rare disease. Moreover, we hope that this Special Issue will serve as an additional tool to help in the continuous efforts to tackle difficult-to-diagnose diseases.
Rare syndrome topics of interest include, but are not limited to, the following:
- Epidemiology;
- Social aspects;
- Pathogenic mechanisms;
- Genetic aspects;
- Prevention;
- Diagnostic tools;
- Novel approaches: artificial intelligence;
- Patient care;
- Clinical aspects;
- Therapy;
- Patient management;
- Study of animal models;
- In vitro models.
For this Special Issue, we aim to collect high-quality papers related to rare syndromes. All submitted articles will undergo a rigorous peer review process to ensure the upmost scientific quality and relevance to the field.
Thank you for your attention. We eagerly anticipate receiving your valuable submissions.
Prof. Dr. Mojgan Rastegar
Dr. José A. Sánchez-Alcázar
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 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. Diseases 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 1800 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
- epidemiology
- social aspects
- pathogenic mechanisms
- genetic aspects
- prevention
- diagnostic tools
- artificial intelligence
- patient care
- clinical aspects
- therapy
- patient management
- study of animal models
- in vitro models
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