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
Chromatin structure has been shown to play important roles in the orchestration of gene expression programs during development. Spatio-temporal specific cis-regulatory sequences often lie at a long distance from the gene(s) they regulate, requiring spatial chromatin folding to move them in close proximity of their target promoters and fine-tune the time, place and level of gene expression. Interestingly, several whole-genome chromatin ...
Inherited cardiac arrhythmias: identification of novel genes and development of a new diagnostic tool for translating genetic diagnosis into precision medicine. University of Antwerp
New perspectives on familial clustering of Alzheimer's disease: the role of rare genetic risk variants. University of Antwerp
Development of a novel transgenic zebrafish model to determine the pathogenicity of genetic variants for 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
Functional assessment of cis-regulatory elements of inherited retinal diseases (IRDs) in Xenopus tropicalis Ghent University
Non-coding variants in functional genomic regions such as cis-regulatory elements (CREs) may be implicated in missing heritability of inherited retinal diseases (IRDs). We aim to generate a regulatory map of the genome in retina and perform functional studies of (likely) pathogenic variants of CREs associated with IRD genes in Xenopus tropicalis using transgenic reporters and CRISPR/Cas9 genome editing.
Tackling the missing heritability of inherited peripheral neuropathies: towards improved patient care, better mechanistic insights and identification of determinants driving phenotypic diversity. University of Antwerp
Unraveling defects in the human innate immune response: Diagnosis of inherited disorders in the NF-κB pathway KU Leuven
Primary immunodeficiencies are inherited diseases that predispose children and adults to recurrent bacterial, viral, and/or fungal infections. The awareness for primary immunodeficiencies is still limited in routine clinical practice and many patients are diagnosed too late to prevent life-threatening infections by appropriate therapy. Toll-like/IL-1R (TIR) receptors and the associated NF-κB signaling pathway are important mediators of the ...