Valérie Allamand
Research Director
Titres
- Inserm Research Director
- PhD in Human Genetics (Université Paris 7 Denis Diderot)
Expertises
- Genetics and Pathophysiology of neuromuscular disorders
- Congenital Muscular Dystrophies
- Extracellular matrix
Présentation
My research focuses on rare neuromuscular disorders, which are genetic diseases leading to muscle wasting and dysfunction. In particular, I am interested in a subgroup of these disorders that are caused by proteins expressed in the extracellular matrix (ECM) of muscle, in particular collagen type VI (COLVI). COLVI deficiency is the cause of a heterogeneous group of disorders, including Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM).
The global objective of my research group is to understand the mechanisms that are altered in the absence of COLVI and other ECM proteins, in order to design therapeutic options for the patients. We are conducting several projects aiming to:
- validate at the functional level the pathogenicity of novel genetic variants identified through NGS in order to provide a definitive molecular diagnosis to patients,
- develop relevant cell and animal models in which we study the pathomechanisms underlying disorders related to COLVI deficiency, and test therapeutic options