Projects
Molecular genetic analysis of Dopa-responsive dystonia. University of Antwerp
Molecular characterization of genetic events driving development of peripheral T cell lymphoma KU Leuven
Peripheral T cell lymphoma (PTCL) is a form of blood cancer that develops from mature T cells, a kind of white blood cells. These T cells are growing uncontrollably, thereby forming a tumor that is mostly located in the lymph nodes. PTCL patients are currently treated with chemotherapy, but the chances of survival are only 30%. Therefore, there is a high clinical need for new therapeutic options for these patients. With this research project, ...
Clinical, electrophysiological and molecular genetic characterization of HMSN type II and intermediate type of CMT. University of Antwerp
Unraveling the molecular basis and genetic epidemiology of Charcot-Marie-Tooth neurpathies: contribution from Northeast Brazil. 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.
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 ...
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 ...