Integrative Translational Research on the Ehlers-Danlos Syndromes

Connective tissue is a complex three-dimensional network consisting of a cellular base which produces an extracellular matrix (ECM) made up of secreted macromolecules. It provides structural support, enhances tissue integrity, and plays important roles in cell-to-cell communication, differentiation, and tissue homeostasis. In heritable connective tissue disorders (HCTD), genetic defects in ECM-associated genes lead to disrupted production, secretion, organization, and/or homeostasis of the ECM in a wide range of organs. Because connective tissue is ubiquitous in the human body, HCTD affect many tissues and organs, leading to multisystemic disorders with important morbidity and mortality. Although individually rare, together the HCTD constitute a significant proportion of genetic diseases. As for most rare diseases, the diagnosis of HCTD is not straightforward, and effective, targeted treatment is mostly lacking. As such, improvements in diagnosis and clinical management of these conditions will have a direct impact on patient well-being and healthcare economics. In addition, understanding the mechanisms underlying the disease processes in these rare monogenic disorders is predicted to have a much larger indirect impact by informing the management of more common, multifactorial disorders sharing similar molecular pathways.
The Center for Medical Genetics Ghent (CMGG) at Ghent University Hospital, in which the Malfait Lab is embedded, has a strong reputation as an internationally recognized center of expertise for research, diagnostics and clinical management related to a range of HCTD, including, among others, the Ehlers-Danlos Syndromes (EDS) and osteogenesis imperfecta.


At the Malfait Lab, PI prof. dr. Fransiska Malfait (MD PhD) and Postdoctoral Fellow dr. Delfien Syx (PhD) lead studies in the following areas of interest:

• Unraveling the molecular basis of HCTD, with a special focus on EDS and other hypermobility-related disorders, and studying their natural history and genotype-phenotype correlations
• Elucidating molecular and physiological mechanisms underlying HCTD pathogenesis, using an integrated approach of in vitro and in vivo techniques, on tissue samples of humans and animal models (zebrafish, mice)
• Studying prevalence, nature and pathophysiologic mechanisms of pain in EDS individuals and in relevant animal models.