Genetic Diagnosis of Rare Neurological Disorders: Advances, Challenges, and Clinical Impact
A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".
Deadline for manuscript submissions: 31 January 2026 | Viewed by 4
Special Issue Editor
Interests: neuodegenerative disorders; neurogenetics; movement disorders
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
In recent years, the diagnosis of rare neurological disorders has been revolutionized by advances in genetic testing and molecular research. What was once a diagnostic odyssey for many patients is now a process guided by powerful genomic tools, which help clinicians and researchers uncover the underlying causes of complex conditions.
This Special Issue, “Genetic Diagnosis of Rare Neurological Disorders: Advances, Challenges, and Clinical Impact”, brings together diverse perspectives on how genetic discoveries are reshaping the way we understand, diagnose, and manage rare neurological diseases. We welcome contributions that highlight new gene findings, cutting-edge diagnostic technologies, clinical case studies, and real-world challenges in implementing genetic testing in clinical practice.
We are especially interested in work that bridges the gap between research and patient care, from improved diagnostic accuracy to implications for treatment, counseling, and long-term management. Our goal is to create a Special Issue that reflects the collaborative nature of this field and inspires continued innovation in the service of patients and families living with rare neurological conditions.
Dr. Georgia Xiromerisiou
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. Diagnostics 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 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
- rare neurological disorders
- genetic diagnosis
- neurogenetics
- next-generation sequencing
- genotype–phenotype correlation
- molecular diagnostics
- clinical impact
- personalized medicine
- translational research
- undiagnosed diseases
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