Projects
Optical mapping of in vivo cardiac mechanics in zebrafish: exploring the pathogenesis and mode of inheritance in catecholaminergic polymorphic ventricular tachycardia. University of Antwerp
Exploring the pathogenesis and mode of inheritance in catecholaminergic polymo hic ventricular tachycardia using optical mapping of in vivo cardiac mechanics in zebrafish. University of Antwerp
Dissecting the immunological and molecular mechanisms of gain-of-function NOD2 mutations in Blau Syndrome and Early Onset Sarcoidosis. KU Leuven
This work focuses on the identification of disease-causing genetic variants in paediatric patients with primary immunodeficiency (PID) and/or autoimmune/autoinflammatory disease. Although paediatric immune pathology is rare, these disorders are associated with a high morbidity and mortality and decreased quality of life. Treatment is often accompanied with serious side-effects and can hold risks on its own. Understanding the genetic cause of ...
NXT-EYE: integrative strategy and identification of hereditary blindness Ghent University
Inherited retinal diseases (IRD) are a major cause of early-onset blindness, having an overall prevalence of ~1/3,000. In addition to the wide spectrum of different clinical subtypes, IRD are also characterized by a tremendous genetic heterogeneity. Up to now, molecular genetic studies have identified 256 genes listed in RetNet that are associated with IRD, complicating the establishment of a molecular genetic diagnosis. Recent genetic ...
Omics and cell-based disease models to explore novel causes of bleeding KU Leuven
Bleeding is controlled by interplays between platelets and coagulation and DNA variants in genes that encode for regulators of these processes are known to cause inherited forms of bleeding. Multigene panel screening showed that the diagnostic rates obtained for platelet count, function and coagulation disorders are 48%, 26%, and 63%, respectively, while this rate drops to 3% for patients with unexplained bleeding though having normal lab ...
Genomics and transcriptomics of auto-immune and autoinflammatory conditions KU Leuven
In this scientific research project we aim to help a group of patients with rare auto-immune and auto-inflamatory conditions by unravelling the pathogenic mutation underlying their disease. These patients may suffer from recurrent fevers, severe arthritis and generalized illness. We will do this by first implementing a screening assay which identifies a rare group of disorders, called interferonopathies. Second, patients identified in this ...
Functional genomics. University of Antwerp
Pathomechanistic study of biglycan mutations in aortopathy and skeletal dysplasia. University of Antwerp
Research at the interface between human genetics and reproduction. Vrije Universiteit Brussel
Malformations of cortical development (MCD) represent a major cause of developmental disabilities and severe epilepsy. Polymicrogyria (PMG) is a heterogeneous condition, with respect to both phenotype and genotype. In the first part ...