Reimagining care of people living with rare diseases with artificial intelligence.

Groza, Tudor; Baynam, Gareth; Jamuar, Saumya Shekhar · PLoS Med · 2026

review · Level V

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Abstract

Artificial intelligence (AI) can transform rare disease care when organized around the patient journey. We outline a patient-clinician-AI triad spanning early detection, diagnosis, clinical trials, and individualized therapies.