A bibliometric study of rare diseases in English and Chinese databases from 1985 to 2024 based on CiteSpace

This study utilizes CiteSpace (version 6.2.R3) to visually analyze literature related to rare diseases, summarizing the current research status and hotspots in the field. The goal was to provide broader perspectives and references for researchers in rare diseases. A comprehensive search for relevant literature in the rare diseases domain was conducted through the China Knowledge Network (CNKI) and Web of Science (WOS), spanning the years 1985 to 2024. Then, CiteSpace software was utilized to create a visual map of the annual publication volume, authors, institutions, keywords, and other content. After screening, 2,293 Chinese and 2,262 English articles were included in the study. Over the last several decades, the diagnosis and treatment of rare diseases have been a common research focus in both China and foreign countries, but there is a significant research depth and breadth gap. In China, there is a shortage of core authors and high-quality literature, and the level of collaboration among research teams is significantly lower compared to the robust international cooperation between authors and institutions. High-frequency and central keywords in the field include "orphan drugs", "children", and "genetic mutations", reflecting research hotspots in this domain. Research on rare diseases has been increasing annually, with key directions focusing on orphan drug development, novel therapeutic agents, genetic therapies, and healthcare security. In the research field of rare diseases, emphasis should be placed on early detection, early prevention, and early treatment. The application of genetic diagnostic techniques in clinical practice will have a broader prospect. This will be one of the direction for future research in this area.