Reimagining care of people living with rare diseases with artificial intelligence

Tudor Groza; Gareth Baynam; Saumya Shekhar Jamuar

doi:10.1371/journal.pmed.1004966

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Reimagining care of people living with rare diseases with artificial intelligence

Tudor Groza ,

Roles Conceptualization, Writing – original draft, Writing – review & editing

* E-mail: tudor_groza@a-star.edu.sg

Affiliations Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore, Maternal and Child Health Research Institute, KK Women’s and Children’s Hospital, Singapore, Singapore, Genetics Service, KK Women’s and Children’s Hospital, Singapore, Singapore, SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore, Duke-NUS School of Medicine, Singapore, Singapore

https://orcid.org/0000-0003-2267-8333

⨯
Gareth Baynam,

Roles Conceptualization, Writing – original draft, Writing – review & editing

Affiliation Rare Care Centre, Perth Children’s Hospital, Perth, Western Australia, Australia

https://orcid.org/0000-0003-4920-9553

⨯
Saumya Shekhar Jamuar

Roles Conceptualization, Writing – original draft, Writing – review & editing

Affiliations Genetics Service, KK Women’s and Children’s Hospital, Singapore, Singapore, SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore

https://orcid.org/0000-0003-2341-8349

⨯

Reimagining care of people living with rare diseases with artificial intelligence

Tudor Groza,
Gareth Baynam,
Saumya Shekhar Jamuar

Published: February 26, 2026
https://doi.org/10.1371/journal.pmed.1004966

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