From the start of my scientific career, I have been fascinated by the highly specific and subtle functional roles of glycans in human biology. In my group, we aim to unravel the genetic and metabolic factors that dictate the glycan code in a tissue specific manner, using information from human genetic glycosylation disorders. We pioneer on the combination of next-generation sequencing and glycomics to identify novel genetic defects in protein glycosylation. In addition, we focus on the cellular sugar metabolism as a key determinant of tissue and protein specific glycosylation changes in human disease. For this purpose, we develop mass spectrometry methods for dynamic imaging of sugar supply pathways using stable isotope tracers, in patient-derived and knock-out cellular models. The disease focus is on neuromuscular disorders as part of the Radboudumc theme Disorders of Movement.
Our research within the Nijmegen Center for Disorders of Glycosylation (NijmegenCDG) spans the translational spectrum from basic research (gathered in the Nijmegen Glycobiology Platform) to patient care and diagnostics.
<< go back