Crucial for many biological functions, the fundamental involvement of glycosylation in the intricate design of life is dramatically illustrated in many diseases and particularly CDGs (Congenital Disorders of Glycosylation). However, while aberrant glycosylation is often a hallmark for several pathologies, the mechanisms of regulation allowing the fine-tuning of the glycosylation machinery to physiological requirements remain poorly understood.
Our research activity can be summarized as follow ; two main goals are achieved.
- We are first interested in the identification and characterization of unsolved Congenital Disorders of Glycosylation (CDG) patients. This part of the activity benefits from a large collection of known and unsolved CDG patients available in Leuven (Collaboration with the group of Dr Gert. Matthijs). We are also part of an E-RARE consortium on rare CDGs. The originality of this research activity is to bring innovative fundamental Glycobiology research on rare glycosylation diseases.
- The second part of our research activity is fundamental and takes advantages of the discovered CDG-I and CDG-II patients. We start from the fact that a prior understanding of defects that affect the glycosylation is a crucial requisite for the detailed understanding of the normal physiology of biological systems. The discovery of CDG patients with ER and/or Golgi glycosylation deficiencies can provide new insights into the basic mechanisms of ER/ Golgi glycosylation regulation.