Projects
Role of autoantibodies against type I IFN in the pathogenicity of SARS-CoV-2 and YFV KU Leuven
Type I interferons (IFNs) are ubiquitously expressed cytokines with essential contribution to both innate immunity and cell-intrinsic immunity against viral infections (Hoffmann, et al. 2015). Their receptors are present in most (if not all) cells and trigger the induction of IFN-stimulated genes (Darnell, 1997) which function to block viral replication. In addition, type I IFNs enhance antigen presentation and restrict viral infection ...
Development of an innovative hiPSC-derived cardiac-microtissue-based functional assay to determine the pathogenicity of genetic variants with uncertain significance identified in patients with inherited cardiac arrhythmia; University of Antwerp
Elucidating the pathogenicity of genetic variants of uncertain significance in Brugada syndrome patients by functional modelling in hiPSC-derived cardiomyocytes and zebrafish. University of Antwerp
A zebrafish model system to assess pathogenicity of genetic variants in patients with cardiac arrhythmias. University of Antwerp
Elucidating the pathogenicity of genetic variants of uncertain significance in Brugada syndrome patients by functional modelling in hiPSC-derived cardiomyocytes and zebrafish. University of Antwerp
Development of a functional model to determine the pathogenicity of COL4A1- and COL4A2-variants of unknown significance in cerebrovascular disorders and aortic aneurysms. University of Antwerp
Development of an in vivo functional assay to determine the pathogenicity of variants in breast cancer genes Ghent University
The BReast CAncer genes 1 (BRCA1) and 2 (BRCA2) are the best known genes associated with a highly increased breast cancer risk. Genes like ATM and BARD1 are associated with a moderately increased risk. All of these are involved in the repair of DNA double strand breaks (DSB) by homologous recombination (HR). With the implementation of next generation sequencing technologies in routine molecular diagnostics, the number of variants detected ...
Identification, validation and pathogenicity of novel autoantibodies in idiopathic inflammatory myopathy. KU Leuven
Systemic sclerosis (SSc) and myositis, commonly referred to as idiopathic inflammatory myopathies (IIM), are rare systemic autoimmune rheumatic diseases characterized by muscle inflammation and skin fibrosis respectively, and internal organ involvement. SSc and myositis can also overlap and could thus be considered as part of a spectrum. Both diseases have a high mortality due to internal organ involvement and an association with malignancy. ...