Projects
Unravelling the molecular pathomechanisms in the newly delineated CBFB-related cleidocranial dysplasia KU Leuven
Unravelling the discriminative pathomechanisms for biglycan-related aortopathy and spondylo-epi-metaphyseal dysplasia. University of Antwerp
Functional genomics. University of Antwerp
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 ...
Application of whole exome sequencing to identify the genetic defect in hereditary connective tissue disorders University of Antwerp
Anlaysis of the genetic defect in melorheostosis and the study of the molecular and biological effects of LEMD3 haploinsufficiency Ghent University
In 2004, we demonstrated that loss-of-function mutations in LEMD3 can lead to osteopoikilosis, the Buschke-Ollendorff syndrome (BOS) and non-sporadic melorheostosis. This project aims 1) to identify the causal genetic defect in sporadic melorheostosis though a candidate gene approach, and 2) to study the biological effects of LEMD3 haploinsufficiency and the pathways that lead to the hyperostotic lesions in these skeletal dysplasias.