Kong Qi, Fan Chenxin, Zhang Ying, Yan Xinlei, Chen Liming, Kang Qi, Yin Peihao
Putuo People's Hospital, School of Medicine, Tongji University, Shanghai, China.
Putuo Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Intractable Rare Dis Res. 2025 Feb 28;14(1):1-13. doi: 10.5582/irdr.2024.01059.
This study aimed to understand research trends, determine frontier topics, and explore the developments in and the differences between research conducted in China and the rest of the world. We analyzed the research status of rare diseases in China and globally over the past decade using bibliometric methods. We focused on rare disease literature indexed in the Web of Science (WoS) and China National Knowledge Infrastructure (CNKI) databases from January 2013 to December 2023. We selected studies based on inclusion and exclusion criteria. CiteSpace 6.1.R6 software were used to prepare knowledge graphs and perform comparative analyses of authors, institutions, content, and hot topics between both databases. A total of 10,754 articles from the WoS and 969 from the CNKI met the inclusion criteria. In the past 10 years, the diagnosis and treatment of rare diseases have been a common research focus in both China and the world. China has emphasized more on "orphan drugs". "Genes" and "management" were focused globally. The United States had the greatest number of publications. China ranks high in terms of publication volume and institutional ranking. Research interest in rare diseases has gradually increased worldwide, with European and American countries maintaining a leading position. China has made significant contributions. China's research is lagging compared to global trends, lacking collaboration with other countries. The diagnosis and treatment of rare diseases remain central themes, whereas genetic research, artificial intelligence, and sociological studies on rare disease populations are emerging as hot topics.
本研究旨在了解研究趋势、确定前沿主题，并探讨中国与世界其他地区在研究方面的发展情况及差异。我们采用文献计量学方法分析了过去十年中国和全球范围内罕见病的研究现状。我们聚焦于2013年1月至2023年12月期间被科学引文索引（WoS）和中国知网（CNKI）数据库收录的罕见病文献。我们根据纳入和排除标准筛选研究。使用CiteSpace 6.1.R6软件绘制知识图谱，并对两个数据库之间的作者、机构、内容和热点话题进行比较分析。WoS数据库中有10754篇文章、CNKI数据库中有969篇文章符合纳入标准。在过去十年中，罕见病的诊断和治疗一直是中国和世界共同的研究重点。中国更强调“孤儿药”。全球范围内则聚焦于“基因”和“管理”。美国的出版物数量最多。中国在发表量和机构排名方面都位居前列。全球范围内对罕见病的研究兴趣逐渐增加，欧美国家保持领先地位。中国也做出了重大贡献。与全球趋势相比，中国的研究相对滞后，缺乏与其他国家的合作。罕见病的诊断和治疗仍然是核心主题，而罕见病群体的基因研究、人工智能和社会学研究正成为热门话题。
