Role of Genetic Tools in Diagnosis and Personalized Treatment for Neurological Diseases
A special issue of Journal of Personalized Medicine (ISSN 2075-4426). This special issue belongs to the section "Personalized Therapy and Drug Delivery".
Deadline for manuscript submissions: 28 February 2025 | Viewed by 459
Special Issue Editor
Interests: neurodegenerative and neuromuscular disorders; neurodevelopmental disorders; anatomy; rare genetic diseases; chaperone system; bioinformatics; in silico studies; DNA sequencing
Special Issue Information
Dear Colleagues,
Many human diseases are related to genetic variants, and most of them cause damage to the nervous system. Scientists' interest in understanding how these variations can influence the phenotype and susceptibility to certain pathologies is ever greater due to the surge in age-related neurodegenerative diseases and the constant increase in the incidence of neurodevelopmental disorders. However, many of these pathologies are characterized by an enormous phenotypic and genotypic heterogeneity whereby the differential and genetic diagnosis is challenging, making the patients orphans of treatment and enlarging the pool of the rare diseases.
Genome-wide association studies have been of enormous help in identifying statistical associations between gene variants and disease phenotypes; however, it has contributed little to the understanding of complex pathologies. Therefore, the use of new and more performing genetic tools and tests, together with new tech multidisciplinary approaches (e.g., bioinformatics and artificial intelligence-based tools), is necessary not only to improve the diagnosis processes and satisfy the urgent need for effective personalized treatments, but also for the evaluation of the individual risk of developing a certain neurological disease and to explore the aspects relating to pharmacogenomics.
This Special Issue will provide a platform for interested computational and experimental developers to disseminate their studies and, at the same time, it will open discussions and new perspectives on recent advances in specialized areas of research.
Dr. Federica Scalia
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. Journal of Personalized Medicine 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.
Keywords
- neurological disorders
- molecular modeling
- bioinformatics
- genetic tools
- genetic variants
- omic technologies
- DNA sequencing
- newborn screening
- therapeutic procedure
- mechanism of action
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.
- e-Book format: Special Issues with more than 10 articles can be published as dedicated e-books, ensuring wide and rapid dissemination.
Further information on MDPI's Special Issue polices can be found here.
