Milestones 2006
First reference centre for rare neuromuscular diseases since 2004, the Institute continued its development in 2006. We aim to develop awareness on pathologies of the neuromuscular system in order to improve the management and information of patients and their families. This will involve a better understanding of the cellular mechanisms of neuromuscular diseases and their genetic origin and the development of innovating therapeutic strategies. We also wish to be among the first to propose to patients new therapeutic solutions. This is why we are developing our expertise in the management of clinical trials.
The Myology Institute : at the height of research
- Major scientific results :
- The gene responsible for a congenital myopathy identified
- The new family of selenopathies
- A new myopathy with lipid overload
- Tools for better observation
In order to create an evaluation and exploration reference platform for muscle, the Institute has obtained a powerful imaging system: a 3 tesla MRI device whose diameter allows “whole body” measurements. Pierre Carlier’s NMR laboratory now has two imaging systems: a more powerful 4T but which only allows to explore limbs (an arm or a leg) or small animals and the 3T “whole body”. New muscle exploration protocols have already begun.
Research protocols in progress
The year 2006 confirmed the orientation of the Myology Institute towards the management or accompaniment of therapeutic trials. These trials cover subjects such as studies of the natural history of genetic muscular diseases to pharmacological therapy, cell therapy, gene therapy, enzymatic therapy or retraining effort.
