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, fiber types and their associated 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 fiber type mapping to reveal how gene regulation and fiber types 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 tibialis anterior muscle. Laminin in white delineates fiber boundaries and different fiber types are shown in magenta (type 2b – MYH4), cyan (type 2x – MYH1) and yellow (type 2a – MYH2).
Credits
Clara Martinez Mir, PhD student, Geijsen lab, reNEW Leiden.
