Reimagining care of people living with rare diseases with artificial intelligence
Abstract
Artificial intelligence (AI) can transform rare disease care when organized around the patient journey. We outline a patient-clinician-AI triad spanning early detection, diagnosis, clinical trials, and individualized therapies.
Fields of Study & Subjects
Artificial Intelligence in Healthcare and Education
Genomics and Rare Diseases
Clinical Reasoning and Diagnostic Skills
Publication details
- Journal / source
- PLoS Medicine
- Publisher
- Public Library of Science (PLoS)
- Volume
- 23
- Issue
- 2
- Pages
- e1004966–e1004966
- Publication date
- 26 February 2026
- Language
- EN