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Rare diseases, affecting fewer than 1 in 2,000 individuals, present significant challenges in diagnosis and treatment due to their diversity, limited clinical data, and lack of awareness among healthcare professionals. Artificial intelligence (AI) is emerging as a valuable tool in rare disease detection, leveraging large datasets and machine learning algorithms to analyze symptoms, genetic data, and medical literature. This paper investigates how AI enhances diagnostic accuracy, shortens the diagnostic process, and addresses the complexities associated with rare diseases. Additionally, we examine case studies, discuss the ethical considerations of AI-based diagnosis, and highlight the potential for AI to revolutionize rare disease care. Keywords: Artificial Intelligence (AI), Rare Diseases, Machine Learning, Diagnosis, Genetic Testing.
Ugwu et al. (Sun,) studied this question.