Artificial intelligence for the comprehensive approach to orphan/rare diseases: A scoping review

Introduction: Orphan diseases (OD) are rare but collectively common, presenting challenges such as late diagnoses, disease progression, and limited therapeutic options. Recently, artificial intelligence (AI) has gained interest in the research of these diseases. Objective: To synthesize the available evidence on the use of AI in the comprehensive approach to orphan diseases. Methods: An exploratory systematic review of the Scoping Review type was conducted in PubMed, Bireme, and Scopus from 2019 to 2024. Results: fifty-six articles were identified, with 21.4% being experimental studies; 28 documents did not specify an OD, 8 documents focused primarily on genetic diseases; 53.57% focused on diagnosis, and 36 different algorithms were identified. Conclusions: The information found shows the development of AI algorithms in different clinical settings, confirming the potential benefits in diagnosis times, therapeutic options, and greater awareness among health professionals. (c) 2024 Sociedad Espanola de M & eacute;dicos de Atenci & oacute;n Primaria (SEMERGEN). Published by Elsevier Espa & ntilde;a, S.L.U. All rights are reserved, including those for text and data mining, AI training, and similar technologies.