国家自然科学基金医学领域资助遗传与罕见病相关研究概况  

Overview on Genetic/Rare Disease-Related Researches Approved by the Department of Health Sciences of NSFC

作　　者：冷玉鑫[1,2] 朱元贵 张凤珠[2] 韩立炜[2] 徐岩英[2] 孙瑞娟[2] Yuxin Leng;Yuangui Zhu;Fengzhu Zhang;Liwei Han;Yanying Xu;Ruijuan Sun(Department of Intensive Care Unit,Peking University Third Hospital,Beijing 100191;Department of Health Sciences,National Natural Science Foundation of China,Beijing 100085)

机构地区：[1]北京大学第三医院,北京100191 [2]国家自然科学基金委员会医学科学部,北京100085

出　　处：《中国科学基金》2022年第6期982-985,共4页Bulletin of National Natural Science Foundation of China

摘　　要：我国丰富的人类遗传疾病谱为促进人类健康领域、尤其是罕见病的基础研究提供了基础支撑。新形势下,面对科研范式的不断变革,临床医学、遗传学、信息学等学科领域的深度交叉及国际合作现状,如何既对遗传与罕见病相关研究进行战略布局、促进人类遗传资源合理利用,又切实依法依规开展相关研究,对基金资助机构提出了更高要求。本文对国家自然科学基金委员会医学科学部成立以来对遗传与罕见病研究的资助进行回顾,为加强“医学遗传学”研究项目的规范管理提供参考。The wide spectrum of human genetic diseases in our country provides essential support for promoting the development of fundamental research in the field of human health,especially for the genetic/rare diseases.Recently,the scientific research paradigm varies continuously with deep intersection and international cooperation in clinical medicine,genetics,and informatics.This poses higher requirements for the funding institutions,on how to ensure the ultimate utilization of our precious human genetic resources under an overall formulated strategy,and the legitimacy of research activities.Here,we retrospected the funding on genetic/rare disease-related researches by the department of health sciences of National Natural Science Foundation of China since its establishment.We hope our work will provide reference on strengthening the standardized management of“medical genetics”research projects.

关 键 词：医学领域 遗传相关疾病 罕见病 资助管理 

分 类 号：R596[医药卫生—内科学] N12[医药卫生—临床医学]