The Institut de Myologie (Myology Institute) is a reference centre for international expertise on diseases, accidents and aging of muscles, intended for research, diagnosis, care and teaching programs, within the Pitié-Salpêtrière Hospital complex (Paris). The Myology Institute houses research teams, genetic diagnostic services, a neuromuscular clinical unit dedicated to both medical care and clinical trials (including gene therapy and cell therapy), biological repositories (DNA, tissues),  a neuromuscular disease clinical unit, neuromuscular physiology assessment team, neuromuscular disease laboratory; MRI laboratory; physiopathology and striated muscle therapy INSERM unit U582; Stem cell and muscle biology INSERM unit.

Thomas Voit was full Professor & Head of Pediatrics at the University Hospital in Essen from 1995 until 2006, before becoming the Medical & Scientific Director at the INSTIT MYOL.

Gisèle identified the first mutations in the LMNA gene encoding the lamins A/C, to be responsible for the aurosomal dominant forms of Emery-Driefuss muscular dystrophy.

Since then, mutations in this gene were reported in more than 10 other disorders now called laminopathies. The genetic diagnosis of the laminopathies affecting the striated msucles is now performed by the Functional Unit of Cardiogenetics and Myogenetics of Pitié-Salpétrière Hospital headed by Dr Pascale Richard in very close link with Gisèle's team.

Gisèle's team has also developed transgenic mouse models carrying LMNA mutations that reproduce the human disease; G Bonne is currently leading a team at the Myology Institute devoted to the genetics and the pathophysiology of neuromuscular disorders.

Gisèle's role is to provide a list of known and candidate genes to be tested, provide DNA of patients to test and validate the NMD chips, participate to the test and the validation of the NMD chips.

Other members of the team involved in the project: Valérie Allamand, Rabah Ben Yaou, Isabelle Nelson
 

Pascale is a Medical Biologist, with a specialization in Molecular Genetics and after her PhD, was recruited at Pitié Salpêtrière to develop a diagnosis lab for cardiomyopathies. Then, she developped other neuromuscular disorders associated or not with a cardiomyopathy. 

Pascale is associated with the team of AIM (Dr G. Bonne) in the project. As a diagnosis lab, she has patients and families with a confirmed molecular diagnosis and thus numerous mutations in the various genes. In the context of the NMD chips, we collaborate with other teams for the choice of the genes and the design of the chips. Pascale is involved in the choice of patients with identified mutations or not and planned to prepare the genetic material for the tests and thus to actively participate to tests and their interpretation. 

Pascale works in the Functional Unit Of Cardiogenetics And Myogenetics a hospital genetic lab whose mission is to find the molecular disease causing defect of inherited disease affecting either the heart or the muscle or both. Genetic testing for cardiomyopathies and rare neuromuscular diseases, congenital muscular dystrophies and myopathies have been developed here during the last 10 years.

For the majority of the tested genes, this is the only lab in France to propose the analysis.

They have a habilitation from the Ministery for the presymptomatic and the prenatal diagnosis.