Facioscapulohumeral muscular dystrophy (FSHD) is a rare genetic disease that causes progressive
skeletal muscle deterioration, turning some of the simplest tasks into obstacles for many patients.
The progression of the disease is characteristically different for each patient, and it is often
accompanied by debilitating chronic pain.
Many people with FSHD lose the ability to walk, rise from a chair, smile at their friends, hold their children, or hug their loved ones.
At Stanford iGEM, we are committed to changing that, trailblazing a possibly life-altering therapeutic to address muscle wasting in FSHD.
People in the world with FSHD [1]
Average cost of FSHD related care per year in USD [2]
Treatment options available for patients [1]
The clock is ticking for people with FSHD.
At its root, FSHD is caused by the aberrant expression of the DUX4 transcription factor. In people with FSHD, a genetic mutation causes improper silencing of the DUX4 gene. The production of DUX4 then wreaks havoc in muscle cells, leading to muscle degradation.
Dux leverages rising synthetic biology capabilities to beat toxic DUX4 to the punch. At Stanford iGEM, we are engineering a modified form of DUX4 which, when delivered to muscle cells, outcompetes and prohibits toxic DUX4 from binding to target sites on DNA and stops muscle wasting in its tracks!
[1] What is FSHD. (n.d.). FSHD Society. https://www.fshdsociety.org/what-is-fshd/#:~:text=An%20estimated%201%20in%208%2C000,develop%20symptoms%20before%20age%2010.
[2] Jkinoshita. (2023, July 24). True Cost of FSHD survey. FSHD Society. https://www.fshdsociety.org/2023/07/24/true-cost-of-fshd-survey/