Genetic Diagnosis and Genomics of Neurological Diseases
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Genetic Diagnosis".
Deadline for manuscript submissions: 20 March 2026 | Viewed by 417
Special Issue Editors
Interests: neurogenetics; genomic technologies; genotype–phenotype correlations
2. Monash Health Genetics Service, Melbourne, Australia
Interests: neurogenetics; ataxia; cerebellum; movement disorders; repeat expansion disorders
Special Issue Information
Dear Colleagues,
The field of neurogenetics has rapidly evolved over the past decade, driven by the expanding use of next-generation sequencing and other genomics technologies. These advances have significantly enhanced the clinical diagnosis of hereditary neurological diseases, improving diagnostic yield and enabling a more precise understanding of genotype–phenotype relationships. As a result, genetics is playing an increasingly central role in the clinical evaluation and management of patients across the spectrum of neurological disorders.
However, some important challenges remain to be overcome. A considerable proportion of individuals with suspected genetic neurological conditions still lack a definitive molecular diagnosis. Moreover, the translation of genetic findings into actionable clinical decisions—such as prognosis estimation, therapeutic guidance, and family counseling—remains complex. The integration of novel molecular tools, multi-layered data analysis, and computational approaches holds promise in addressing these gaps and advancing precision neurology.
This Special Issue, “Genetic Diagnosis and Genomics of Neurological Diseases”, will bring together contributions that explore current developments and unresolved questions in the genetic diagnosis of neurological disorders. It will include studies on diagnostic strategies, genotype–phenotype correlations, emerging technologies, and data-driven approaches to enhance our ability to interpret genetic variation and improve care for patients with hereditary neurological diseases.
Dr. Avi Fellner
Dr. Penina Ponger
Guest Editors
Manuscript Submission Information
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Keywords
- neurogenetics
- hereditary neurological diseases
- genetic diagnosis
- genotype–phenotype correlation
- next-generation sequencing
- precision neurology
- clinical genomics
- diagnostic yield
- genomic technologies
- data-driven approaches
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