Development of a human immortalized FSHD cell line to study the epigenetic targeting of DUX4 to treat FSHD
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating disease resulting from the loss of skeletal muscles mainly in the face, shoulder blades and upper arms. FSHD results from expression of the protein DUX4
which causes skeletal muscle cell death and therefore loss of muscles. This project aims to immortalize isolated skeletal muscle cells from patients with FSHD and produce long-lived cells that can be used to screen
pharmaceutical compounds for their ability to inhibit the expression of DUX4 and therefore treat FSHD. The completion of this project will result in a new tool to advance Resverlogix's efforts in FSHD drug development.