Duchenne muscular dystrophy (DMD) is a severe genetic disease affecting 1 in 3,500 boys, caused by mutations in the DMD gene, preventing dystrophin production. DMD leads to progressive weakness, loss of mobility, and death from cardiac or respiratory failure in early adulthood. We map gene expression and metabolism across muscle regions to reveal mechanisms of degeneration and therapeutic targets.
Impact
DMD causes severe disability and death in the early to mid-twenties, profoundly affecting patients and their families. By developing gene editing tools in muscle disease models, we aim to lay the groundwork for therapies that restore strength and improve quality of life.
reNEW research
We are studying DMD progression combining mouse and 3D stem cell models with transcriptional and metabolic mapping to reveal how gene regulation and energy use change during degeneration. In parallel, we are developing CRISPR/Cas gene-editing strategies and optimizing iTOP delivery to repair the DMD gene and restore dystrophin function.
Image description
Murine gastrocnemius muscle. Composition of consecutive cross-section stained with Pico Sirus red (top left) for connective tissue (red), hematoxylin and eosin (top right) to visualize myofibers (pink) and nuclei (purple), cytochrome c oxidase histochemistry (bottom left) to visualize oxidative fibers (dark brown) and succinic dehydrogenase histochemistry to visualize oxidative fibers (dark blue).
Credits
Isabel de Poorter, Research Technician, Geijsen lab, reNEW Leiden.
