Projects
Detection of somatic mutations and disease-defining methylation patterns in brain tissue and cerebrospinal fluid of patients with non-acquired focal epilepsy Ghent University
The majority of non-acquired focal epilepsies (NAFE) have a presumed genetic etiology. However, the current yield of diagnostic genetic testing in affected patients is very low. This diagnostic gap is an important barrier to the broader use of gene-targeted therapies. Increasing evidence from resected brain tissue of individuals with NAFE points towards an important role of pathogenic somatic variants and methylation abnormalities. Most NAFE ...
Pathomechanistic study of RCBTB1-associated inherited retinal disease using Xenopus tropicalis and patient-derived induced pluripotent stem cells Ghent University
We identified RCBTB1 as novel disease gene for inherited retinal disease. Proof-of-concept from a
Xenopus tropicalis rcbtb1 knockout and human deep phenotyping led to the hypothesis that
RCBTB1-disease affects RPE-biology. Key objectives are to understand RPE-disease progression
at the organismal level in the Xenopus tropicalis rcbtb1 knockout and in a patient-derived RPE
cellular model, and to characterize the ...
Investigating astrocyte toxicity in amyotrophic lateral sclerosis using human motor units KU Leuven
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder characterized by the loss of both upper and lower motor neurons (MNs). In this regard, in the last years the non-cell autonomous contribution of reactive astrocytes has been considered as extremely influential to the course of the pathology. Unfortunately, in-vitro 2D cultures and mouse models are not capable to fully recapitulate molecular pathological features and motor ...
Elucidating FTLD-FUS through international collaboration and long-read sequencing approaches. University of Antwerp
Dissecting tissue spatial organization using machine learning and spatial transcriptomics Ghent University
In this project, we aim to better functionally characterize different spatial contexts within tissues. To this end we will develop novel bioinformatics pipelines to process and integrate several “omics” and imaging data types. Novel machine learning methods will be explored that aim to combine the high spatial resolution of imaging techniques with the deep phenotyping capabilities of current scRNAseq methods.
A comprehensive model for protein aggregation and its application to the design of monoclonal antibodies and peptides for targeted aggregation KU Leuven
OrganID: Organ-derived complex 2D/3D cultures in human disease KU Leuven
2D/3D organoids are miniaturized and simplified in vitro systems of organs derived from biopsies
either from human or animal tissue. They are characterized by heterogeneity and complexity and
therefore resemble well the in vivo situation. If cultured under specific growth conditions, the
stem cells of these biopsies grow out to a spheroid 3-dimensional structures resembling the
original organ they were derived of. One ...
Computational biomechanics and bioengineering 3D printing to develop a personalized regenerative biological ventricular assist device to provide lasting functional support to damaged hearts KU Leuven
Ischemic heart disease is the main cause of death in the EU, straining patients and economies. Regenerative Medicine has failed at delivering a definitive solution, and even the breakthrough of cell reprogramming, biomaterials or 3D printing, have not been able to find a curative solution. Generating a muscle with efficient pumping requires a careful recapitulation of the myocardial architecture. BRAV∃ is born with the ambition of shaping ...
Artificial Intelligence (AI)-enabled mining of big longitudinal datasets collected with wearable sensors. KU Leuven
Medical diagnosis and patient follow-up currently relies on the experience of highly specialised clinicians, who evaluate patient symptoms during in-person visits, augmented with results coming from specialised laboratory tests and subjective patient reports. A wide range of digital measurement technologies offer the opportunity to record and store various aspects of health and pathological symptoms in a more frequent and detailed way ...