The genetic architecture of neurological disorders: an integrated review

Abstract Background Neurological disorders, ranging from common conditions like Alzheimer’s and Parkinson’s disease to rare syndromes, often involve complex genetic architectures that complicate diagnosis and treatment. While advances in genomics have uncovered numerous associated variants, translat...

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Bibliographic Details
Main Authors: Aayushi Gupta, Nadir Aman
Format: Article
Language:English
Published: SpringerOpen 2025-08-01
Series:Egyptian Journal of Medical Human Genetics
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Online Access:https://doi.org/10.1186/s43042-025-00762-z
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Summary:Abstract Background Neurological disorders, ranging from common conditions like Alzheimer’s and Parkinson’s disease to rare syndromes, often involve complex genetic architectures that complicate diagnosis and treatment. While advances in genomics have uncovered numerous associated variants, translating these findings into clinical and counseling practice remains a challenge. Main themes This review explores recent progress in the genomics of neurological disorders, highlighting key genetic variants and their implications for disease mechanisms. It discusses the role of genetic counseling in interpreting and communicating genomic data, and outlines how clinical neuroscience is increasingly integrating genetic information to refine diagnoses and develop targeted therapies. Clinical relevance Through a multidisciplinary lens, the review emphasizes how the convergence of genomics, genetic counseling and clinical neuroscience can drive personalized approaches to neurological care. It also addresses barriers to implementation, such as variant interpretation complexities, patient communication challenges and evolving ethical considerations. Conclusion Bridging genomics with clinical and counseling domains is essential for realizing precision medicine in neurology. This integrated approach holds promise for improving diagnostic accuracy, patient education and the development of novel therapies, ultimately enhancing patient outcomes.
ISSN:2090-2441