Mucopolysaccharidoses | Lab GMD

The search for new therapies, disease biomarkers and underlying pathological mechanisms

The mucopolysaccharidoses (MPSs) are a group of severe lysosomal storage disorders, caused by a deficiency in the breakdown of glycosaminoglycans resulting in lysosomal accumulation and deregulation of different cellular functions.
Depending on the MPS subtype, children may suffer from severe neurocognitive decline, cardiopulmonary disease and progressive skeletal deformations. As the disease progresses over time and only for a few MPS subtypes disease modifying therapy is available, many patients die at an early age.

The goal of our research is to gain a better understanding of the different pathophysiological mechanisms of MPSs to identify new targets for therapeutic intervention and biomarkers for better diagnosis.
The strength of our research group lies in the close collaboration between clinicians and researchers, enabling us to build a bridge between our laboratory and the daily clinical practice, resulting in innovative translational research and optimal patient care.

Mucopolysaccharidoses figure 1

Contact

Dr. Naomi van Vlies

+31 20 566 6039
n.vanvlies@amc.uva.nl

Address
Laboratory Genetic Metabolic Diseases
Academic Medical Center
Meibergdreef 9
1105 AZ Amsterdam
The Netherlands
Room F0-116