A Scoping Review on the Application of Artificial Intelligence in Treating Rare Diseases

Abstract

Rare diseases affect a small percentage of the population but often present significant challenges in diagnosis, treatment, and management due to their complex and heterogeneous nature. Recent advancements in artificial intelligence (AI) have shown promising potential to address these challenges by improving early diagnosis, personalized treatment strategies, and drug discovery. This scoping review explores the current landscape of AI applications in rare disease treatment. We examine the role of AI-driven tools in enhancing diagnostic accuracy, optimizing treatment pathways, and facilitating drug repurposing for rare conditions. Additionally, we highlight the limitations and ethical concerns associated with AI implementation, such as data privacy, the need for high-quality datasets, and algorithmic transparency. The findings suggest that while AI holds transformative potential, its integration into clinical practice for rare diseases requires multidisciplinary collaboration, ongoing research, and regulatory oversight.