Projects
Identifying a pain signature in classical Ehlers-Danlos syndrome Ghent University
Pain represents a major challenge to modern medicine, as it is often inadequately controlled by currently used analgesics. Recent studies provide evidence that the extracellular matrix (ECM) plays an important role in the development and persistence of pain. Strikingly, chronic pain is one of the most common complaints of patients suffering from genetic alterations affecting the ECM. The Ehlers-Danlos Syndromes (EDS) comprise a heterogeneous ...
Linking extracellular matrix defects and chronic pain: the Ehlers-Danlos syndrome as a disease model Ghent University
Chronic pain is one of the most common, yet poorly studied, complaints in patients suffering from Ehlers-Danlos Syndrome (EDS). This heterogeneous group of heritable connective tissue disorders is characterized by skin hyperextensibility and fragility, joint hypermobility and generalized connective tissue fragility and is caused by defects in a variety of extracellular matrix (ECM) molecules. Chronic pain is a major source of disability and ...
Study of biological mechanisms involved in heritable connective tissue disorders, using the Ehlers-Danlos Syndrome as a paradigm Ghent University
This project aims at the identification of new genes for various Ehlers-Danlos syndrome (EDS) subtypes, a heritable genodermatosis, as well as the analysis of the function of ZNF469, found to contain mutations in the Brittle Cornea Syndrome, a condition overlapping with EDS, and finally the creation of a mouse model for the vascular EDS subtype.
Study of mediators and pathways contributing to chronic pain in Ehlers-Danlos syndrome Ghent University
This project aims to gain more insights into the molecular origins and mechanisms that initiate and maintain chronic pain in Ehlers-Danlos syndrome (EDS). To this purpose, we will study pain-related behavior in EDS animal models, analyse the concomittant changes in innervation and pain pathways and evaluate the pronociceptive potential of extracellular matrix proteins secreted by patient fibroblast cultures.
Study of mediators and pathways contributing to chronic pain in Ehlers-Danlos syndrome Ghent University
It is now well established that acute and chronic pain are common, though variable, manifestations observed in individuals suffering from Ehlers-Danlos syndrome (EDS). This clinically and genetically heterogeneous group of heritable connective tissue disorders is characterized by joint hypermobility, skin fragility and generalized soft connective tissue fragility. This is caused by defects in a variety of extracellular matrix (ECM) ...
Identification of novel genes and pathogenic pathways for osteogenesis imperfecta and Ehlers-Danlos syndrome, paradigm collagen disorders Ghent University
This project aims to identify novel genes and study underlying pathogenetic pathways of osteogenesis imperfecta and Ehlers-Danlos syndrome, two clinically and genetically heterogeneous heritable connective tissue disorders characterized by widespread manifestations of tissue fragility in skin, bone, ligaments, blood vessels and internal organs. Comprehensive study of these conditions is crucial for the understanding of fundamental aspects of ...
Study of the pathogenic mechanisms involved in the Ehlers-Danlos syndrome Ghent University
The Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by fragility of the connective tissues, mainly affecting the skin, ligaments, joints and blood vessels. This project will focus on the search for new genes underlying clinically well characterized EDS subtypes and on the development of animal models to study the pathogenic mechanisms and to evaluate therapeutic approaches.
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 ...
From variome to phenome: study of genetic defects underlying the heritable connective tissue disorder Ehlers-Danlos syndrome, and their pathogenic consequences on extracellular matrix organisation and function Ghent University
In some patients with Ehlers Danlos syndrome (EDS), a clinical, molecular and pathogenic overlap is seen with patients suffering from inherited myopathies. This research aims to study this overlap and the biological consequences of defects in the different molecules that are associated with these disorders. In addition, we will continue the search for candidate genes for molecularly unresolved EDS phenotypes.