Pascale Richard

Institut de Myologie

Pascale Richard

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 NMD-Chip 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.