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机器学习在神经遗传学个性化医疗中的潜力:当前趋势与未来方向。

The potential of machine learning to personalized medicine in Neurogenetics: Current trends and future directions.

作者信息

Ghorbian Mohsen, Ghorbian Saeid

机构信息

Department of Computer Engineering, Qo.C, Islamic Azad University, Qom, Iran.

Department of Biology, Ta.C, Islamic Azad University, Tabriz, Iran.

出版信息

Comput Biol Med. 2025 Sep;196(Pt A):110756. doi: 10.1016/j.compbiomed.2025.110756. Epub 2025 Jul 10.

Abstract

Neurogenetic disorders (NeD) are a group of neurological conditions resulting from inherited genetic defects. By affecting the normal functioning of the nervous system, these diseases lead to serious problems in movement, cognition, and other body functions. In recent years, machine learning (ML) approaches have proven highly effective, enabling the analysis and processing of vast amounts of medical data. By analyzing genetic data, medical imaging, and other clinical data, these techniques can contribute to early diagnosis and more effective treatment of NeD. However, using these approaches is challenged by issues including data variability, model explainability, and the requirement for interdisciplinary collaboration. This paper investigates the impact of ML on healthcare diagnosis and care of common NeD, such as Alzheimer's disease (AD), Parkinson's disease (PD), Huntington's disease (HD), and Multiple Sclerosis disease (MSD). The purpose of this research is to determine the opportunities and challenges of using these techniques in the field of neurogenetic medicine. Our findings show that using ML can increase the detection accuracy by 85 % and reduce the detection time by 60 %. Additionally, the use of these techniques in predicting patient prognosis has been 70 % more accurate than traditional methods. Ultimately, this research will enable medical professionals and researchers to leverage ML approaches in advancing the diagnostic and therapeutic processes of NeD by identifying the opportunities and challenges.

摘要

神经遗传疾病(NeD)是一组由遗传性基因缺陷导致的神经系统疾病。这些疾病通过影响神经系统的正常功能,在运动、认知和其他身体功能方面引发严重问题。近年来,机器学习(ML)方法已被证明非常有效,能够分析和处理大量医学数据。通过分析基因数据、医学影像和其他临床数据,这些技术有助于神经遗传疾病的早期诊断和更有效的治疗。然而,使用这些方法面临着数据变异性、模型可解释性以及跨学科合作需求等问题的挑战。本文研究了机器学习对常见神经遗传疾病(如阿尔茨海默病(AD)、帕金森病(PD)、亨廷顿舞蹈病(HD)和多发性硬化症(MSD))的医疗诊断和护理的影响。本研究的目的是确定在神经遗传医学领域使用这些技术的机遇和挑战。我们的研究结果表明,使用机器学习可以将检测准确率提高85%,并将检测时间缩短60%。此外,这些技术在预测患者预后方面的准确率比传统方法高出70%。最终,这项研究将使医学专业人员和研究人员能够通过识别机遇和挑战,利用机器学习方法推进神经遗传疾病的诊断和治疗过程。

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