“If we were thinking of a collection of the genome’s greatest hits, this would go on the list.” — Dr. Francis Collins, director of the National Institutes of Health, on the discovery of the FSHD genetic mechanism
Here are two excellent overviews of FSHD research:
- Facioscapulohumeral muscular dystrophy. Wikipedia article maintained by the FSH Society Journal Club members.
- Facioscapulohumeral dystrophy: the path to consensus on pathophysiology. Rabi Tawil, Silvère M van der Maarel and Stephen J Tapscott. In Skeletal Muscle. (Free Access.)
There are many potential therapeutic pathways and targets for FSHD, as depicted in this schematic. (Modified from Himeda et al. “Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease” (2015) Antioxidants & Redox Signaling.)