Rare disease publishing trends worldwide and in China: A CiteSpace-based bibliometric study

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.