精准医学应用于罕见神经疾病的现状与前景

 罕见神经疾病往往具有病因不明、疾病进行性发展、表型差异性大等特点，在诊治方面始终面临着巨大挑战。近年来，精准医学在罕见神经疾病中的应用愈加广泛，在探索发病机制、细化诊断分型、改善治疗手段、评估风险与积极预防等方面显现出良好的前景。此外，精准医学可以连接基础和临床，对于创新疾病诊治思路有重要提示作用。尽管罕见病信息资源整合程度有限、组学数据释读仍存在困难，但随着生物信息学和计算技术的飞速发展，精准医学在罕见神经疾病方面的应用前景仍然值得期待。精准医学研究有望促成罕见神经疾病诊疗水平的飞跃。

Precision medicine in dealing with rare neurologic diseases:Current status and future prospects

For rare neurologic diseases, a clear etiology is often not available, and one sees a progressive course of the diseases with a diversity in phenotypes, which poses great challenges for the diagnosis and the treatment. Recent years have witnessed a growing role of the precision medicine in dealing with rare neurologic diseases. The precision medicine has shown a great promise in exploring the pathogenesis, refining the diagnosis, improving the treatment and assessing the onset risk. In addition, the precision medicine can serve as the link between the basic medicine and the clinical practice, which provides an innovative model of the disease diagnosis and treatment. Despite difficulties in the resource integration and the omics data integration, the rapid progress of the bioinformatics and the information technology makes more promising the prospect of the precision medicine in dealing with rare neurologic diseases. The precision medical research is expected to have a leap forward in the diagnosis and treatment of neurologic diseases.