背景:通过收集和整理国家自然科学基金资助的罕见病项目,了解了基金会在罕见疾病领域资助的项目类别,疾病的种类,疾病系统的类别,区域分布,支持机构的分布,以及它们的动态变化,其次是国家相关政策的重点和影响分析。这将有助于完善国家支持重点领域的罕见病相关政策,从而促进罕见病领域的健康可持续发展。方法:通过国家自然科学基金资助项目查询网站,对1986年至2019年期间基金会在罕见病领域资助的项目进行了检索,然后对罕见病项目的资金投入进行了描述性分析,项目数量,时间和区域分布,并分析其动态变化的规律。结果:截至2019年底,国家自然科学基金资助的罕见病57个,相关项目678个,累计总资金25352.5万日元。在项目类别中,资金最多的项目是一般项目(150,145,000日元,59.22%),其次是青年基金会项目(53,719,000日元,21.19%)和重点项目(15,870,000日元,6.26%);在疾病系统类别中,资金最多的疾病系统是神经系统(93,186,000日元,37.76%),其次是呼吸系统(35,444,000日元,13.98%);资金最多的疾病是多发性硬化症(34,870,000日元,13.75%),特发性肺纤维化(¥29,854,000,11.78%),和色素性视网膜炎(¥27005000,10.65%);资金最多的地区是华东地区(¥10698.7万元,42.20%)和华北地区(¥7184.4万元,28.34%),而资金最少的地区是西北地区(729.5万日元,2.88%);在支持机构中,资助最多的院校是北京大学(2472万日元,9.75%),和中山大学(14,505,000日元,5.72%)。结论:随着更多鼓励创新政策的出台和审批程序的加快,等。,中国国家自然科学基金委员会一直在增加对罕见疾病的资助,涵盖越来越多类别的资助项目,更多类型的疾病,和更广泛的地区。尽管如此,中国对科学研究的支持还比较薄弱。因此,建议通过完善相关罕见病政策,促进罕见病健康可持续发展,鼓励罕见病药物的研发,设立罕见病专项资金,加速资金流通,平衡发展与重点地区和重大疾病优惠资金相结合。
Background: Through collection and sorting of rare disease projects funded by the National Natural Science Foundation of China, an understanding was gained of the categories of projects funded by the foundation in the field of rare diseases, types of diseases, categories of disease systems, regional distribution, distribution of supporting institutions, and their dynamic changes, followed by an analysis of focuses and influences of relevant state policies. This will help improve the rare disease-relating policies of the state in supporting the key fields, thus promoting healthy and sustainable development in the field of rare diseases. Method: Through the website of inquiry of projects funded by the National Natural Science Foundation of China, a retrieval was made concerning the projects funded by the foundation in the field of rare diseases during the period from 1986 to 2019, followed by descriptive analysis of fund input of rare disease projects, number of projects, temporal and regional distribution, and the analysis of the law of their dynamic changes. Result: As of the end of 2019, there were 57 rare diseases and 678 related projects funded by the National Natural Science Foundation of China, with accumulated total funding of ¥ 253,525,000. Among the categories of projects, the most-funded projects were general (¥ 150,145,000, 59.22%), followed by Youth Foundation projects (¥ 53,719,000, 21.19%) and key projects (¥ 15,870,000, 6.26%); among the categories of disease systems, the most funded disease system was the nervous system (¥ 93,186,000, 37.76%), followed by the respiratory system (¥ 35,444,000, 13.98%); the most funded diseases were multiple sclerosis (¥ 34,870,000, 13.75%), idiopathic pulmonary fibrosis (¥ 29,854,000, 11.78%), and retinitis pigmentosa (¥ 27,005,000, 10.65%); the most funded regions were East China (¥ 106,987,000, 42.20%) and North China (¥ 71,844,000, 28.34%), while the least funded region was Northwest China (¥ 7,295,000, 2.88%); among the supporting institutions, the most funded institutions were Peking University (¥ 24,720,000, 9.75%), and Sun Yat-sen University (¥ 14,505,000, 5.72%). Conclusion: With the promulgation of more policies on encouragement of innovation and accelerated approval procedures, etc., the National Natural Science Foundation of China has been increasing its funding to rare diseases, covering increasingly more categories of funded projects, more types of diseases, and wider regions. Nonetheless, the support for scientific research in China is still relatively weak. Therefore, it is proposed that the healthy and sustainable development in the course of rare diseases should be promoted through the improvement of relevant rare disease policies, encouragement of R&D of medicine for rare diseases, the establishment of special funds for rare diseases, acceleration of fund circulation, and combination of balanced development and preferential funding to key regions and major diseases.