Peter and Takako Jones Lab for FSHD

Facioscapulohumeral muscular dystrophy (FSHD) is the most prevalent muscular dystrophy that affects males and females, children and adults and affects ~1 million individuals worldwide.  Currently there is no cure or ameliorative treatment.  Our goal is to help change this through a multi-pronged approach to relieve key bottlenecks in the therapeutic pathway by 1) creating much-needed tools for FSHD preclinical testing (e.g., FSHD-like mouse models and large animal models), 2) developing novel FSHD-specific therapeutics (e.g., CRISPR-inhibition gene therapy and small molecule drugs targeting DUX4 expression), 3) identifying circulating biomarkers to aid in clinical trials, and 4) to make FSHD diagnostics affordable and accessible to the worldwide FSHD community.