Mmastodon ScienceScience first seen 1 d ago, last 34 min ago, peak #1

AI could 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 positioned as a tool to speed up diagnosis of rare diseases, a process that often takes patients years. By connecting symptoms, genomic variants, medical records and the latest research, systems can rank likely diagnoses and flag previously unsolved cases as new knowledge emerges. Proponents stress the aim is decision support for clinicians, not replacing rare-disease specialists.

Why now: Growing interest in how AI can reduce the years-long delay many rare-disease patients face before getting a diagnosis

rare diseasesartificial intelligencegenomics

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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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