INSERM

INSERM

INSERM U910 (Marseille) & U827 (Montpellier)

The National Health and Medical Research Institute was created in 1964. It is a public technical and scientific body controlled by both the French Ministries of Health and of Research. It is the only French research institute entirely dedicated to human health. Its researchers are studying all sorts of diseases, the most common as well as the most rare, through their work in biological, medical and health research.

The Hôpital d'Enfants de la Timone (Children's Timone Hospital) is one of the most important hospitals in France according to the number of specialities it groups. It is strongly linked to the medical research units on the same campus (Medical Faculty), in particular, the Genetic Department works together with the INSERM UMR_910, both directed by Pr N. Lévy. The hospital department specialises in myopathies, neuropathies and mental retardation diagnostics. It is composed of several groups in charge of clinical, molecular and chromosomal genetics. in parallel, they are also involved in several clinical trials, one of the most important of which is the Progeria trial, that has been entirely designed and managed by the group, from bench to bed.

The 910 unit is composed of several research groups, mainly on NMD but also on cardiac development and defects and male infertility. Both the hospital and the research labs are strongly linked and work together to identify genetic causes of disease, understand pathophysiological pathways, find out innovative therapeutic approaches on preclinical models, then transfer them to human models.  

The second INSERM unit involved in the NMD-chip project is U827 in Montpellier, which is a French National reference diagnostic laboratory for various diseases including DMD, BMD and DMC and one of the few laboratories able to search for point mutations in the DMD gene by transcript analysis. It is a reference laboratory for bioinformatics and database design and curator of various LSDBs including DMD and LAMA2. In addition, the U827 lab is one of the three authorized for pre-implantatory genetic diagnosis in France. They have developed the UMD software that is an international reference tool for LSDB design. They have created various algorithms to help in therapeutic approaches (identification of the best exon-skipping, selection of target sequences for AOs and selection of patients' candidates for a specific exon-skipping). They also have validated these predictions by functional assays.


Website www.inserm.fr

 

Ségolène Aymé Ségolène Aymé

Ségolène Aymé is a medical geneticist, Director of research at the French Institute of Health and Medical Research (INSERM). She is the executive manager of the INSERM department dedicated to information on rare diseases in Paris.

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Nicolas Lévy Nicolas Lévy

Nicolas's activity is mainly focused on the genetics and cell biology of neuromuscular disorders (NMDs). At the diagnosis level, in the last 12 years, his laboratory has set-up specific protocols towards exploring most genes involved in peripheral neuropathies (CMTs) and LGMDs together with the exploration of numerous other NMDs (DMD/BMD, FSH, IBM/GNE) and laminopathies. 

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Christophe Béroud Christophe Béroud

Christophe Béroud (PharmD, PhD): has 22 years experience in research laboratories and is an expert in bioinformatics (LSDBs) and molecular biology (diagnostic of DMC).

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Rafaëlle Bernard

Rafaëlle Bernard, Associate Professor, is supervisor of the daily molecular diagnosis activities on NMDs. He has outstanding experience in the field and in associated genetic counselling.

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Marc Bartoli Marc Bartoli

Dr Marc Bartoli is a recognized expert in physiopathological studies of muscular dystrophies and gene transfer. He has particular experience on limb-girdle muscular dystrophies.

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Patrice Bourgeois Patrice Bourgeois

Patrice obtained a PhD in Molecular Biology in Strasbourg in 1997, in the field of molecular embryology and genetics. After a post-doc on plant biotechnology and OGM production he contributed to the creation of a private company dedicated to drug bio-production in plants, before turning back to human genetics, therapeutics and clinical research in 2003.

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Jamel Chelly Jamel Chelly

Professor Jamel Chelly is head of the laboratory at the Cochin Institute and coordinates the NMD-chip activities there. He has numerous publications in many leading journals, such as Cell, Nature, and Nature Genetics.

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Mireille Claustres Mireille Claustres

Mireille Claustres, M.D., Ph.D., holds the positions of Professor of Genetics (PU-PH, Professeur des Universités-Praticien Hospitalier) and Director of the Research INSERM unit 827 entitled "Laboratory for Rare Disorders: Molecular Genetics, Functional studies and Locus specific databases") at the University Hospital of Montpellier, south of France. She leads the Department of Molecular Genetic Diagnostics (including prenatal and preimplantation genetic diagnosis) and associated Masters Teaching programmes in Montpellier. She has over 25 years experience devoted to the genetic diagnosis of DYSTROPHINOPATHIES.

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Call 33 4 67 41 53 60 (secretary)

 

Veronique Humbertclaude

Veronique is a Child neurologist who specialises in neuromuscular disorders.

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France Leturcq

France Leturcq, Supervisor of the daily protein and molecular diagnostic activities, they have an outstanding experience in the field of diagnosis and genetic counselling. A reference for DMD and LGMD.

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Sylvie Tuffery-Giraud Sylvie Tuffery-Giraud

Sylvie Tuffery-Giraud (PhD) has 16 years experience in molecular analysis of the dystrophin gene and is particularly involved in mutations leading to splicing defects.

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Call 33 4 67 41 53 83