AI Models Could Improve Diagnosis and Care for Rare Diseases.

Spichak, Simon · J Med Internet Res · 2026

other · Level V

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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.

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