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Abstract Objective Here, we analyzed the research status of rare diseases in China and globally over the past decade using bibliometric and scientific knowledge graph methods. We 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. Methods We focused on rare disease literature indexed in the Web of Science and CNKI databases from January 2013 to December 2023. We selected studies based on inclusion and exclusion criteria. Bibliometric methods and the CiteSpace 6.1.R6 software were used to prepare knowledge graphs and perform comparative analyses of authors, institutions, content, and hot topics between Chinese and English databases. Results A total of 10,754 articles from the Web of Science database and 969 articles from the CNKI database 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 foreign countries. However, China has emphasized more on "orphan drugs," whereas foreign countries have focused more on "genes" and "management." The United States had the greatest number of publications. However, China ranks high in terms of publication volume and institutional ranking. Conclusion The research interest in rare diseases has gradually increased worldwide, with European and American countries maintaining a leading position. China has made significant contributions to rare disease research. However, its research focus is lagging compared to international trends, and a lack of collaboration with foreign countries exists. The diagnosis and treatment of rare diseases remain central themes in the field, whereas genetic research, artificial intelligence intervention, and sociological studies on rare disease populations are emerging as hot topics.
Kong et al. (Fri,) studied this question.