AI Models Could Improve Diagnosis and Care for Rare Diseases.
other · Level V
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- Record sourced from PubMed, PMID 42464796.
- Also identified by DOI 10.2196/106582.
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Abstract
Rare diseases are often critically underfunded, leaving many patients without timely diagnosis and treatment. In this News and Perspectives article, JMIR Correspondent Simon Spichak, who was a 2025 recipient of the National Press Foundation Rare Disease Reporting Fellowship, reports on advances in AI modeling that may offer new promise for rare disease detection and care.
Medical subject headings
- Rare Diseases
- Artificial Intelligence