Novel Biomarkers in Fabry disease Progression

Fabry disease (FD) a is multi-systemic, X-linked lysosomal storage disease caused by a range of mutations in the GLA gene that encodes for alpha-galactosidase A (α-gal A). Mutations leading to a deficient or absent activity of the enzyme α-gal A result in a progressive accumulation of lysosomal glycosphingolipids, such as globotriaosylceramide (Gb-3). As a consequence of the anomalous accumulation of Gb-3, different cellular mechanisms are triggered, leading to a dysfunctional endosomal–lysosomal system, activation of chronic inflammation and apoptosis, contributing to the progression of FD. The most affected systems are the cardiovascular system (cardiomyocytes, conduction system cells, vascular endothelial, and smooth muscle cells and fibroblasts), the renal system (podocytes, tubular, glomerular, mesangial, and interstitial cells), and the nervous system (neurons in autonomic and posterior root ganglia). The main objective of this project is to uncover novel biomarkers for FD prognosis.

Funding Agency

Amicus therapeutics

Project Reference

Project Members

Main Project Outcomes

S. Queirós, “Right ventricular segmentation in multi-view cardiac MRI using a unified U-net model”, in E. Puyol Antón et al. (eds) Statistical Atlases and Computational Models of the Heart. Multi-Disease, Multi-View, and Multi-Center Right Ventricular Segmentation in Cardiac MRI Challenge. STACOM 2021. Lecture Notes in Computer Science, vol 13131, pp. 287-295, Springer, Cham, 2022.

“Best Paper Award in the M&Ms-2 Challenge”, by M&Ms2 Challenge organizers and the Medical Image Computing and Computer Assisted Intervention (MICCAI) Society.