Dirk Lefeber is appointed as professor of Glycosylation Disorders in Neurology. He also leads the Radboudumc Expertise center for Disorders of Glycosylation.
Glycosylation is a process by which proteins are modified with different sugars. Variations in this process occur with almost every disease. Although the biological language of our DNA and proteins is already well understood, this is certainly not the case for protein glycosylation.
The translational research of Dirk Lefeber aims to uncover the biological mechanisms of glycosylation in patients with hereditary metabolic disorders at Radboudumc. He contributed to the discovery of >20 novel genetic diseases and unraveled several novel molecular pathways for the incorporation of sugars into the glycosylation process. This has resulted in translation to improved diagnostics and novel therapies in inpatient care.