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 544
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
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Keywords
- neurological disorders
- molecular modeling
- bioinformatics
- genetic tools
- genetic variants
- omic technologies
- DNA sequencing
- newborn screening
- therapeutic procedure
- mechanism of action
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