Artificial intelligence (AI) has the potential to identify patients with rare diseases years before traditional diagnoses, according to a study published in Science Translational Medicine. The study found that an AI program successfully identified individuals at risk of a rare immune disorder, with 74 out of 100 high-risk individuals confirmed to have the disorder. The use of AI tools can help speed up the diagnosis process, reducing the delays and health complications associated with rare diseases. The researchers are hopeful that AI algorithms can be applied to other rare diseases, improving diagnostic accuracy and patient outcomes.

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