Artificial intelligence empowering rare diseases: a bibliometric perspective over the last two decades

To conduct a comprehensive bibliometric analysis of the application of artificial intelligence (AI) in Rare diseases (RDs), with a focus on analyzing publication output, identifying leading contributors by country, assessing the extent of international collaboration, tracking the emergence of research hotspots, and detecting trends through keyword bursts.

In this bibliometric study, we identified and retrieved publications on AI applications in RDs spanning 2003 to 2023 from the Web of Science (WoS). We conducted a global research landscape analysis and utilized CiteSpace to perform keyword clustering and burst detection in this field.

A total of 1501 publications were included in this study. The evolution of AI applications in RDs progressed through three stages: the start-up period (2003-2010), the steady development period (2011-2018), and the accelerated growth period (2019-2023), reflecting this field's increasing importance and impact at the time of the study. These studies originated from 85 countries, with the United States as the leading contributor. "Mutation", "Diagnosis", and "Management" were the top three keywords with high frequency. Keyword clustering analysis identified gene identification, effective management, and personalized treatment as three primary research areas of AI applications in RDs. Furthermore, the keyword burst detection indicated a growing interest in the areas of "biomarker", "predictive model", and "data mining", highlighting their potential to shape future research directions.

Over two decades, research on the AI applications in RDs has made remarkable progress and shown promising results in the development. Advancing international transboundary cooperation is essential moving forward. Utilizing AI will play a more crucial role across the spectrum of RDs management, encompassing rapid diagnosis, personalized treatment, drug development, data integration and sharing, and continuous monitoring and care.