// About FSHD
To understand the mechanism and underlying cause of FSHD, basic/fundamental research is essential. Scientists try to unlock the cause of FSHD which is currently identified as the DUX4 gene. This gene when activated (post embryonic stage) causes damage to muscle cells, thereby causing FSHD.
To identify effective treatments/therapies for FSHD – this research is essential. Research scientists, pharmaceutical companies, and other organisations are involved in unlocking the underlying cause and there by a ‘treatment’ for FSHD.
Current pipeline for FSHD: FSHD Drug Pipeline
Professor. Julie Dumonceaux: Professorial Research Fellow
Developmental Neurosciences Dept. GOS Institute of Child Health. UCL. London
My research focuses on developing therapeutic strategies and on identifying circulating biomarkers in the blood that could be used in a simple test to monitor how severe the disease is and how it changes over time for each patient. Circulating biomarkers can also be used to follow the effect of treatments. I also study how and why muscle tissue is lost in people living with FSHD, and how we might prevent this loss or even promote muscle mass and strength. Understanding these mechanisms is essential for designing new treatments that can better protect muscle function and improve daily life for patients.
Professor. Peter. S. Zammit
Randall Centre for Cell and Molecular Biophysics,
King’s College London.
‘Basic research provides the understanding of complex conditions such as FSHD: fundamental to designing therapies and for clinical trial readiness’
Professor Zammit is involved in many other organisations such Solve FSHD to drive forward the FSHD agenda.
