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AI Models Could Improve Diagnosis and Care for Rare Diseases

Year: 2026

Type: article

Abstract: Unlabelled: 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.

Source: Journal of Medical Internet Research

DOI: 10.2196/106582

Author: Simon Spichak

Language: English

Topic: Artificial Intelligence in Healthcare and Education

Subfield: Health Informatics

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,950

OpenAlex ID: W7169589904

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