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AI may shorten the rare-disease diagnostic odyssey

Original: AI may help shorten the rare-disease diagnostic odyssey. Systems can connect symptoms, genomic variants, medical records

Artificial intelligence is being proposed as a tool to speed up diagnosis of rare diseases, a process that often takes patients years. AI systems can link symptoms, genomic variants, medical records and research literature to rank possible diagnoses, and can revisit unsolved cases as new knowledge emerges. Supporters stress the goal is decision support for clinicians rather than replacing rare-disease specialists.

Why now: Growing interest in how AI can ease the long, exhausting journey rare-disease patients face to get a diagnosis

artificial intelligencerare diseasesgenomic medicineclinicians

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Evidence

• AI may help shorten the rare-disease diagnostic odyssey. Systems can connect symptoms, genomic variants, medical records and research to rank possible diagnoses and reopen unsolved cases as knowledge changes. The goal is decision support — not replacing rare-disease… · nexthorizon · 15

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