AI Diagnoses Rare Diseases with 98% Accuracy: Outperforms Human Doctors in Clinical Trial
11/15/2025
X.NEWS AI
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AI Diagnoses Rare Diseases with 98% Accuracy: Outperforms Human Doctors in Clinical Trial

Medical AI system successfully identifies rare conditions that typically take years to diagnose, potentially saving lives and reducing healthcare costs.

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A new artificial intelligence system has demonstrated remarkable success in diagnosing rare diseases, achieving 98% accuracy in a clinical trial involving over 10,000 patients. The AI, developed by a collaboration between medical researchers and AI specialists, can identify rare conditions that typically take years and multiple specialist visits to diagnose. The system analyzes patient symptoms, medical history, genetic data, and lab results to suggest potential diagnoses, often catching conditions that human doctors might miss. In the trial, the AI correctly identified rare diseases in cases where the average time to diagnosis was previously 4.5 years. The technology could significantly improve patient outcomes by enabling earlier treatment and reducing the diagnostic odyssey that many patients with rare conditions experience. Regulatory approval is being sought for clinical use, with deployment expected in major hospitals within the next year.
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Sources

Nature MedicineNew England Journal of MedicineMIT Technology ReviewHealthcare IT News

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