Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular dystrophy, affecting 1 in 15,000 patients worldwide. It causes debilitating pain, fatigue, and progressive asymmetric muscle weakness. However, the cause is poorly understood, and there are currently no treatments. Dr. Knox will study the DUX-4 protein as a potential cause of FSHD, and will examine gene modification therapy to potentially block the DUX-4 protein from being released.
This research is funded by the Muscle Study Group and the American Brain Foundation, in collaboration with the American Academy of Neurology. Dr. Knox will conduct her research at Nationwide Children’s Hospital.