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, 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.

Authors

Institutions

Publication Details

Journal
Egyptian Journal of Medical Human Genetics
Published
2025-08-10
DOI
https://doi.org/10.1186/s43042-025-00762-z
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

The genetic architecture of neurological disorders: an integrated review

Aayushi Gupta, Nadir Aman
Egyptian Journal of Medical Human Genetics
Genomics and Rare Diseases
article

The genetic architecture of neurological disorders: an integrated review

Aayushi Gupta, Nadir Aman
article en

Abstract

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.

Egyptian Journal of Medical Human GeneticsVol. 26(1)
Centre for Cellular and Molecular Biology (IN), HCL Technologies (India) (IN)
Openalex Percentile: Top 77%
Genomics and Rare Diseases
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.

The genetic architecture of neurological disorders: an integrated review — Aayushi Gupta, Nadir Aman · Egyptian Journal of Medical Human Genetics (2025) | TGRS Research Map | TGRS