With CMTA support, researchers at the University of Antwerp, led by Vincent Timmerman, PhD, are advancing efforts to develop a human-derived organoid model to study CMT1A. Using induced pluripotent stem cells (iPSCs) from a patient with CMT1A and a genetically matched control, the team is creating 3D organoids that include Schwann cells, which are critical for myelin production in peripheral nerves.
In the project’s first phase, the team validated the iPSC lines and confirmed their quality for further development. These cell lines are being used to generate organoids that mimic the cellular environment of CMT1A, enabling researchers to explore Schwann cell maturation and myelin development. Ongoing work includes using advanced techniques like single-cell RNA sequencing and quantitative PCR to assess gene expression and study how disease heterogeneity impacts organoid development.
This project aims to establish a reliable organoid model for CMT1A, providing a valuable tool for understanding disease mechanisms and testing potential treatments.
