Reimagining care of people living with rare diseases with artificial intelligence
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.
Authors
- Saumya Shekhar Jamuar (ORCID: https://orcid.org/0000-0003-2341-8349)
- Groza Tudor
- Gareth Baynam
Institutions
- Agency for Science, Technology and Research (SG)
- SingHealth (SG)
- Princess Margaret Hospital for Children (AU)
- SingHealth Duke-NUS Academic Medical Centre (SG)
- KK Women's and Children's Hospital (SG)
- Duke-NUS Medical School (SG)
- Bioinformatics Institute (SG)
- Perth Children's Hospital
Publication Details
- Journal
- PLoS Medicine
- Published
- 2026-02-26
- DOI
- https://doi.org/10.1371/journal.pmed.1004966
- Primary Topic
- Artificial Intelligence in Healthcare and Education
- Type
- article
- Field-Weighted Citation Impact
- 0.00