精准医学在罕见神经变性病中的应用

发布时间：2018-06-09 20:16

本文选题：罕见病 + 神经变性疾病　；参考：《国际药学研究杂志》2017年02期

【摘要】：随着分子生物学、分子遗传学及基因测序技术的进步,人类对疾病遗传病因的探索取得了巨大的进展,并已进入精准医学时代。精准医学应用现代遗传技术、分子影像技术、生物信息技术,结合患者生活环境和临床数据,实现精准疾病分类及诊断,制定具有个性化的疾病预防和治疗方案。此外,精准医学有助于发现疾病的未知致病基因,明确疾病基因型与表型的精确分类,鉴定疾病诊断和预后的生物标志物,开发潜在的疾病修饰治疗方法等。神经系统罕见病的种类多,疾病表型复杂,准确诊断十分困难,而精准医学的发展尤其有助于神经罕见病诊治能力的提高。神经罕见病中的神经变性疾病由于其病因不明、疾病呈进行性发展等特殊性,精准医学将对这一领域研究有巨大促进作用,同时面临更大的挑战。
[Abstract]:With the progress of molecular biology, molecular genetics and gene sequencing technology, great progress has been made in the exploration of the genetic cause of disease, and it has entered the era of precision medicine. Precision medicine applies modern genetic technology, molecular imaging technology, biological information technology, combined with the living environment and clinical data of patients to realize the classification of accurate disease. And the diagnosis, the formulation of a personalized disease prevention and treatment program. In addition, precision medicine helps to identify the unknown disease genes, identify the exact classification of the genotype and phenotype of the disease, identify the biomarkers of the disease diagnosis and prognosis, develop the potential disease modification therapy, and so on. The phenotype is complex and accurate diagnosis is very difficult, and the development of precision medicine is especially helpful to the improvement of the diagnosis and treatment of rare diseases. The neurodegenerative diseases in the rare diseases of the nerve are special because of their unknown etiology and the progressive development of the disease. Precision medicine will have a great effect on this field and face a greater challenge.
【作者单位】：四川大学华西医院神经内科;
【基金】：国家重点研发计划精准医学研究重点专项“罕见病临床队列研究”资助项目(2016YFC0901500)
【分类号】：R741

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