Collaborative Effort to Evaluate a Novel Treatment Paradigm for FSHD Using EB-ON Technology

Investigators: Fran Sverdrup PhD, Shiri Levy PhD, Gregory J Block MSc PhD

Category: Research - Basic

The proposed work aims to develop a new treatment for FSHD, a genetic disorder that weakens muscles due to the harmful effects of a gene called DUX4. Current experimental treatments try to stop DUX4 from causing damage, but they can have side effects and may not always work due to the gene's unpredictable activity.

We are exploring a technology called EB-ON, which can durably turn on specific genes that may prevent DUX4 from turning on in the first place. This project will collaborate with an FSHD expert to find the best formulation to reduce DUX4 activity using the EB-ON technology in lab-grown muscle cells from FSHD patients.

Overall, the project seeks to create a safer and more stable treatment for FSHD by using gene activation rather than gene silencing strategies. The grant from Friends of FSH Research will prove paramount for establishing the proof-of-concept data necessary drive future investment into the program.