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Minh is a young child from Việt Nam who developed symptoms including fatigue, tremors, and unexplained jaundice. His parents sought medical counsel from various experts, but misdiagnoses led to a series of unnecessary treatments. With the help of AI-powered diagnostic tools, Minh’s parents were able to uncover the underlying cause of his condition and receive the proper treatment. This article explores the remarkable impact of AI in unravelling rare diseases and the potential of AI to transform the diagnosis and treatment of diseases, particularly in low and middle-income countries.