Joint Transnational Call 2018 (JTC2018)


“Glycosylation is a chemical modification of proteins in our cells. It affects their stability and function. Thousands of proteins are ‘glyco-proteins’. As a result, genetic defects in these pathways lead to mostly severe diseases, called ‘Congenital Disorders of Glycosylation’ (CDG). With over 70 different types, CDG becomes an impressive group of metabolic diseases.  

On the one hand, we have patients with clear glycosylation anomalies, whose genetic defect remains elusive. We plan to use genomic tools to identify new genes and new disease mechanisms. On the other hand, we believe that many other patients with symptoms that fit with CDG (like intellectual disabilities, multiple congenital anomalies, bleeding disorders etc.), may have a glycosylation disorder that presently escapes diagnosis because the diagnostic tools are insufficient. We will develop new biomarkers based on glycomics, glycopeptidomics and metabolomics. 

The ultimate goal is to treat or cure CDG patients. This proves difficult, as the cellular compartments where glycosylation occurs cannot easily be reached with therapeutic compounds. Hence, we will use cellular and mouse models to study the pathophysiology of different types of CDG. In addition, fundamental research into the biochemistry of the sugars may lead to the identification of completely novel types of disease.  

EUROGLYCAN-OMICS brings together a multidisciplinary group of clinical and basic researchers who have proven to be able to collaborate. We want to achieve the ambitious goals set here, for the sake of the patients and their families.”

  • Matthijs, Gert (Coordinator)
    Center for Human Genetics University of Leuven [BELGIUM]
  • Van Schaftingen, Emile
    De Duve Institute [BELGIUM]
  • Foulquier, François
  • Thiel, Christian
    Center for Child and Adolescent Medicine [GERMANY]
  • Kornak, Uwe
    Berlin-Brandenburg Center for Regenerative Therapies [GERMANY]
  • Lefeber, Dirk
    Radboudumc [NETHERLANDS]
  • Hansíková, Hana
    The First Faculty of Medicine [CZECH REPUBLIC]
  • Pérez, Belén 
    Centro de Diagnóstico de Enfermedades Moleculares, Fundación Biomedical del Hospital La Paz, IDIPAZ [SPAIN]