P238: Can artificial intelligence reduce racial and ethnic disparities in Fabry disease diagnosis?

Genetics in Medicine Open 2026 Open access

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Authors: Staci Kallish, Matthew W. Nelson, Yuri Ostrovsky, Joseph W. Zabinski, Laura Hennessy, Biliana O. Veleva-Rotse, Joseph D. Giuliano
DOI: 10.1016/j.gimo.2026.103732
Cited by: 0

Abstract

Fabry disease (FD) is a rare, pan-ethnic, X-linked disorder that affects both males and females and is characterized by a deficiency in the α-galactosidase A enzyme. Its birth prevalence has been estimated at approximately 1 in 40,000 but the true rate is likely higher.

Fields of Study & Subjects

Lysosomal Storage Disorders Research Artificial Intelligence in Healthcare and Education Metabolism and Genetic Disorders

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103732–103732
Publication date
1 January 2026
Language
EN