Research
An integrated translational platform to gain insights in and improve diagnosis and management of the Ehlers-Danlos Syndromes.
The Ehlers-Danlos Syndromes comprise a heterogeneous group of heritable connective tissue disorders, in which patients share the presence of joint hypermobility, skin hyperextensibility and soft tissue fragility. The consequences of this tissue fragility are associated with important morbidity and increased mortality. In addition, many patients suffer from chronic intractable pain with a severe impact on quality of life. For many EDS types, molecular defects have been identified that disturb the primary structure, biosynthesis and/or supramolecular organization of fibrillar collagens, ultimately leading to a disorganized extracellular matrix (ECM). Yet, for a substantial proportion of EDS patients, the underlying genetic defect remains unsolved. Furthermore, the biological processes that lead to various phenotypic outcomes in EDS are poorly understood. As such, there are still major gaps in the diagnosis and management of EDS.
Combining deep phenotyping tools with state-of-the-art and innovative molecular, biochemical and imaging techniques, both in clinic, in murine and in zebrafish models for EDS, our team aims to uncover molecular mechanisms which will inform diagnostic assays, biomarkers and/or treatment targets.
Our lab has an excellent reputation for integrating clinical and bench research. It is embedded within the Center for Medical Genetics at the Ghent University Hospital, which is internationally renowned as an expert center for the diagnosis and clinical care patients and families suffering from heritable connective tissue disorders (HCTD). The strength of our research lies in the tight connection between basic science and the clinic, allowing translation in both directions. Knowledge gaps and unmet medical needs encountered in daily clinical practice are translated into research questions and opportunities, and discoveries generated by laboratory results and preclinical studies provide entry points for clinical applications.
Research topics:
The Ehlers-Danlos Syndromes comprise a heterogeneous group of heritable connective tissue disorders, in which patients share the presence of joint hypermobility, skin hyperextensibility and soft tissue fragility. The consequences of this tissue fragility are associated with important morbidity and increased mortality. In addition, many patients suffer from chronic intractable pain with a severe impact on quality of life. For many EDS types, molecular defects have been identified that disturb the primary structure, biosynthesis and/or supramolecular organization of fibrillar collagens, ultimately leading to a disorganized extracellular matrix (ECM). Yet, for a substantial proportion of EDS patients, the underlying genetic defect remains unsolved. Furthermore, the biological processes that lead to various phenotypic outcomes in EDS are poorly understood. As such, there are still major gaps in the diagnosis and management of EDS.
Combining deep phenotyping tools with state-of-the-art and innovative molecular, biochemical and imaging techniques, both in clinic, in murine and in zebrafish models for EDS, our team aims to uncover molecular mechanisms which will inform diagnostic assays, biomarkers and/or treatment targets.
Our lab has an excellent reputation for integrating clinical and bench research. It is embedded within the Center for Medical Genetics at the Ghent University Hospital, which is internationally renowned as an expert center for the diagnosis and clinical care patients and families suffering from heritable connective tissue disorders (HCTD). The strength of our research lies in the tight connection between basic science and the clinic, allowing translation in both directions. Knowledge gaps and unmet medical needs encountered in daily clinical practice are translated into research questions and opportunities, and discoveries generated by laboratory results and preclinical studies provide entry points for clinical applications.
Research topics:
- Develop prospective long-term (inter)national patient registries
- Identify novel genetic factors causing disease presentations in human EDS
- Link extracellular matrix defects and chronic pain using the Ehlers-Danlos syndromes as a disease model
- Establish quantifiable readouts of disease manifestations in zebrafish models for EDS
- Identify new biological pathways related to EDS through an integrated and unbiased ‘omics’ approach
- Study biological processes involved in EDS pathogenesis, including hypermobile EDS
- Translate insights gained from pathophysiologic and ‘omics’ studies into the clinic to improve diagnosis, and measure disease progression and/or efficacy of treatment