The Dumonceaux lab is focused on the development of innovative treatment approaches for neuromuscular diseases. Our current work addresses treatment for Facioscapulohumeral dystrophy (FSHD) that is the 1st most common dystrophy in adult. FSHD patients present a weakness and atrophy of a specific set of muscle located in the face, the shoulder and the upper arms (For review see ). FSHD patients may have different genetic defects, but they all present epigenetic alterations of the D4Z4 array located on the subtelomeric part of chromosome 4, leading to chromatin relaxation and ultimately to the aberrant expression of 1 gene called DUX4 ,. When expressed in muscles, DUX4 triggers a cascade of events ultimately leading to cell death. Our lab develops strategies targeting DUX4 at mRNA  and protein levels.
We also investigate general aspects of muscle homeostasis such as myostatin mechanisms. We have shown that circulating myostatin levels are dramatically reduced (at mRNA and protein levels) in patients affected by several neuromuscular disorders, raising major questions about the usefulness of blocking the myostatin pathway in neuromuscular patients . More recently, we have demonstrated that circulating myostatin could be a reliable biomarker to monitor drug response in several neuromuscular diseases including Duchenne Muscular Dsytrophy .