从罕见内分泌疾病研究看精准内分泌学的发展

发布时间：2019-06-29 09:53

【摘要】：罕见病指患病率低于7/10000的疾病,是精准医学研究的重要生物学模板和理想平台。多发性内分泌腺瘤综合征(MEN)、新生儿糖尿病、库欣氏综合征、先天性瘦素缺乏症等多种罕见内分泌疾病研究都反映了精准医学在内分泌领域的作用。在此基础上,本文进一步概括精准内分泌学的发展方向,在骨质疏松症、糖尿病、肥胖等内分泌疾病中应用精准医学,有助于对个体发病风险进行评估和预防,对复杂疾病进行精确诊断及分型,对疾病进行个体化治疗。此外,医学信息学在精准内分泌学领域的应用不仅可推动大数据平台建设,也提供了针对多因素复杂内分泌疾病的诊疗新思路。随着分子生物学技术的发展,建立罕见内分泌疾病的基因型和表型大数据平台,对于实现罕见内分泌疾病的精准诊疗具有重要意义。
[Abstract]:Rare disease refers to diseases with a prevalence rate of less than 7 脳 10, 000, which is an important biological template and ideal platform for precision medical research. Many rare endocrine diseases, such as multiple endocrine adenoma syndrome (MEN), neonatal diabetes mellitus (DM), Cushing's syndrome (Cushing's syndrome) and congenital leptin deficiency (congenital leptin deficiency), all reflect the role of precision medicine in the field of endocrine. On this basis, this paper further summarizes the development direction of accurate endocrine science, the application of precision medicine in osteoporosis, diabetes, obesity and other endocrine diseases is helpful to evaluate and prevent the risk of individual disease, to accurately diagnose and classify complex diseases, and to individualized treatment of diseases. In addition, the application of medical informatics in the field of precision endocrine can not only promote the construction of big data platform, but also provide a new idea for the diagnosis and treatment of multi-factor complex endocrine diseases. With the development of molecular biology technology, the establishment of big data platform for genotypic and phenotypic rare endocrine diseases is of great significance for the accurate diagnosis and treatment of rare endocrine diseases.
【作者单位】：中国医学科学院北京协和医院中心实验室;中国医学科学院北京协和医院心脏内科;
【基金】：国家重点研发计划项目(2016YFC0901500) 上海市出生缺陷防治重点实验室开放课题(16DZKF1007) 国家卫生计生委2016年信息化与统计项目
【分类号】：R58

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