Projects
Molecular genetic analyses of Bulgarian Gypsy families with inherited neurological 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.
Molecular genetic and functional analysis of the role of Wnt signaling in the pathogenesis of osteoporosis and obesity. University of Antwerp
Investigation of the molecular basis of the Ehlers-Danlos Syndrome, a genetic model for the study of joint hypermobility Ghent University
Joint hypermobility is a prominent feature of diverse connective tissue diseases a.o. the Ehlers-Danlos syndrome. Little is known about the genetic basis of joint hypermobility and genetic heterogeneity is suggested. In this project a recently identified candidate locus for the hypermobile subtype of EDS will be analysed by next generation sequencing in order to identify the causal genetic defect. In a next step, the genome of a cohort of ...
High throughput molecular diagnostics in individual patients for genetic diseases with heterogeneous clinical presentation (TECHGENE). KU Leuven
Study of the genetic basis and molecular pathogenesis of cardiovascular manifestations in heritable thoracic aortic aneurysms Ghent University
This project aims to gain more insights into the molecular and cellular mechanisms contributing to Marfan syndrome (MFS)-related aortic- and cardiac disease by studying different pathways, cellular behaviour and cell-matrix interactions in MFS mouse models.
In addition, we aim to identify new genes in patients and families with genetically unexplained thoracic aortic aneurysms and dissections using a whole exome sequencing ...
Molecular genetic studies of inherited epilepsies. University of Antwerp
Molecular Genetic and Transcriptomic Meta-Analysis of Yeast Central Metabolism to Identify Potential Antifungal Targets in Candida albicans KU Leuven
Trehalose is a disaccharide composed of two molecules of glucose. It is very common in bacteria and fungi and it is the blood sugar in insects. Trehalose levels have been shown to correlate very well with cellular stress resistance in a variety of organisms and developmental stages. The trehalose-6-phosphate phosphatase (encoded by the TPS2 gene) catalizes the last step in trehalose synthesis in most organisms and when deleted in the human ...