Precision genomic profiling in Gaucher disease: insights from atypical presentations.

ABSTRACT:

Background

Gaucher disease (GD) is characterized by significant phenotypic heterogeneity, even among patients with identical GBA1 genotypes, suggesting the role of genetic and/or epigenetic modifiers. The enzymatic defect and pathological accumulation of glucosylceramide (GlcCer) lead to chronic metabolic inflammation, providing ample opportunities for interaction with other biological pathways to influence disease expression. Herein, we developed a model of precision medicine in this prototype single-gene disorder.

Methods

This study leveraged a well-characterized, longitudinally followed cohort of GD patients from a major tertiary care center, integrating whole-exome sequencing (WES) with detailed clinical information. We applied a precision medicine framework cente

SUBMITTER: Saith A 

PROVIDER: S-EPMC12634035 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature