Projects
A systemic search for novel congenital disorders of Glycosylation type 1 (CDG-I), with a comprehensive evaluation of the clinical phenotypes. KU Leuven
Glycosylation is one of the most abundant protein modifications found in nature. It results from a meticulously orchestrated process involving numerous proteins for the assembly and modification of oligosaccharide chains, and their attachment onto proteins and lipids. The importance of glycosylation is illustrated by a group of diseases called Congenital Disorders of Glycosylation (CDG). To date, almost 100 distinct disorders have been ...
Expanding the genetic landscape of Congenital Disorders of Glycosylation using genomic techniques - RNA-Seq KU Leuven
Untangling the pathophysiology of congenital disorders of glycosylation affecting the OST complex KU Leuven
Congenital disorders of glycosylation (CDG) are a group of over 100 inherited disorders characterised by defective glycosylation of proteins and lipids. Although the phenotypic and genetic characteristics of CDG as a whole are well established, their pathophysiology is poorly understood. In addition, the phenotype of affected patients is extremely variable, with dramatically different clinical presentations often appearing in patients with ...
Towards treatments of Congenital Disorders of Glycosylation KU Leuven
Congenital disorders of glycosylation (CDG) are severe multisystemic
inborn errors of metabolism. For most of these orphan diseases,
there is only supportive therapy, therefor constituting an unmet
medical need. In PMM2-CDG, the most frequent CDG, despite its
genetic characterization and clarification of enzymatic dysfunction,
there is insufficient insight in the pathophysiology to adequately
develop ...
Galactose rewires metabolism in the treatment of congenital disorders of glycosylation. KU Leuven
Congenital disorders of glycosylation (CDG) are a group of individually rare diseases that often severely affect multiple organs. On a biochemical level there is a malfunction of the glycosylation machinery that normally puts sugar antennas on most proteins in order that they can perform their function properly. Usually, there is no treatment for these CDG. A notable exception are a group of CDG that are characterize by a deficit of galactose ...
Training the future generation of clinical and basic reseachers for Congenital Disorders of Glycosylation KU Leuven
Deciphering the function(s) of SLC10A7 in Congenital Disorders of Glycosylation (CDG). KU Leuven
Congenital Disorders of Glycosylation (CDG) are a rapidly growing and heterogeneous group of rare metabolic diseases caused by inborn defects in glycosylation. Thanks to the use of Whole Exome Sequencing (WES), SLC10A7 has been identified as a candidate gene in CDG patients with a specific clinical phenotype of skeletal dysplasia. The function of SLC10A7 is absolutely not deciphered yet. This PhD project proposes to apply our combined ...
Metabolomics as a tool for developing therapies in an endothelial cell model of congenital disorders of glycosylation KU Leuven
Congenital disorders of glycosylation (CDG) are severe multisystemic inborn errors of metabolism. For most of these orphan diseases, there is only supportive therapy, therefor constituting an unmet medical need. In PMM2-CDG, the most frequent CDG, despite its genetic characterization and clarification of enzymatic dysfunction, there is insufficient insight in the pathophysiology to adequately develop therapies. In current project we will ...