UCL Great Ormond Street Institute of Child Health


Great Ormond Street Institute of Child Health


Translational Myology Laboratory

Myotubes FSHD

The Translational Myology Laboratory (PIs Professor Thomas Voit and Dr. Julie Dumonceaux) is focused on the development of innovative treatment approaches for neuromuscular diseases. We use an Adeno-associated-virus (AAV) platform and muscle cell immortalization or iPS techniques to both create disease-relevant cellular and animal models as well as treatment approaches. In these we combine technologies of vector-mediated gene knock-down or gene transfer with other approaches aiming at stabilizing or correcting genetic abnormalities.

Our current work addresses treatment approaches for Facio-scapulo-humeral muscular dystrophy (FSHD), Myotonic Dystrophy, and Duchenne- Becker- and Limb girdle muscular dystrophy. In addition, we investigate general aspects of muscle homeostasis such as myostatin mechanisms and how these can be exploited for ameliorating wasting muscle conditions.