Research team
Expertise
My PhD research project focused on CRISPR/Cas9 gene editing in the mouse/human germline and human pluripotent disease stem cell models targeting genes related to infertility. Currently, I am working as a post-doctoral researcher in the Peripheral Neuropathy Research Group in UAntwerp led by Prof. Vincent Timmerman. My main focus is to investigate Charcot-Marie-Tooth (CMT) in different 3D human stem cell models.
Unraveling the neuromuscular features of Charcot-Marie-Tooth disease with neuromuscular organoids and assembloids.
Abstract
Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy. Although multiple animal models have been created, the low animal-to-human translational success demands the need of new disease models originating from human cells. In this project, I will develop and characterize induced pluripotent stem cell (iPSC)-derived organoids for CMT1A and CMT2A, the most common CMT types. These organoids consist of neuronal cells surrounded by myelinating Schwann cells, demonstrating pathological signatures (e.g. myelin disruption) when derived from CMT1A-iPSCs. Notwithstanding the mimicking potential of neuromuscular organoids, they do not grow in a directional manner which complicates the investigation of various CMT-related features, including the understudied disruption of neuromuscular junctions which is a hallmark for CMT. Therefore I will additionally generate iPSC-derived assembloids which have an anterior-to-posterior organisation, highly relevant to study neuromuscular junctions in CMT. For both organoids and assembloids, an in-depth investigation of CMT-related structural and molecular characteristics will be performed and a comparison between both CMT types will be undertaken. Furthermore, I will conduct an in-depth assessment of the response to therapeutic interventions in these models. In general, these CMT models have the potential to facilitate the development of new treatments and to diminish the necessity for animal experiments.Researcher(s)
- Promoter: Timmerman Vincent
- Fellow: Bekaert Bieke
Research team(s)
Project type(s)
- Research Project