Overview of FSHD Research

“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:

Visit our page on Genetic Cause of FSHD for a description of the genetic mechanism of FSHD Type 1 and FSHD Type 2.

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.)