How AI Is Speeding Up the Diagnostic Odyssey for Rare Diseases

Abstract The road to diagnosis can be long and sometimes unending for rare diseases, requiring training and resources that many clinics do not have. In this News and Perspectives article, JMIR Correspondent Simon Spichak reports on how AI initiatives at a children’s hospital in the United States and one in Canada are helping bridge that gap and could fundamentally reshape the diagnostic experience for children and families living with rare diseases.