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 rares, by their work in biological, medical and health researches.

The Hôpital d'Enfants de la Timone (Children's Timone Hospital) is one of the most important hospital in France by the number of specialities it groups. It is strongly linked to the medical research units on a 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 is specialised in myopathies, neuropathies and mental retardation diagnostics. It is composed of several groups in charge of clinical, molecular and chromosomal genetics. in parallel, we are involved in several clinical trials, whom the most important is the Progeria trial, that we have entirely designed and that we manage, 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 hospital and research lab's 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.  

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, selection of patient’s candidates for a specific exon-skipping). They also have validated these predictions by functional assays. 

INSERM website

Co-ordinator of the NMD-Chip project.

• University Professor & Hospital Practician (Genetics)
• Department of Medical Genetics, Hôpital d'enfants de la Timone.
• Faculté de Médecine de Marseille -  Research and Teaching.
• Head of the research Inserm team "Genetics of Neuromuscular disorders and Laminopathies".
• Head of the Center for Teaching and Research in Medical Genetics (CERGM).

Nicolas' 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 setted-up specific protocols towards exploring most genes involved in peripheral neuropathies (CMTs) and LGMDs together with the exploration of numerous others NMDs (DMD/BMD, FSH, IBM/GNE, …) and Laminopathies. This diagnosis activity allowed to identify large cohorts of patients, perfectly characterized at the molecular level, and who'll thus be eligible for future innovative therapeutic trials. In particular, they have the largest known cohort of patients affected with dysferlin deficiency, and set-up targeted therapeutic approaches according to their mutations types.

Also Nicolas has kept a clinical activity with patients in the context of specific consultations for NMDs for whose our center has recently been labelized as a referral center for NMDs. As a researcher, he developed three main projects; i) in the field of CMT, we localize and identify genes and related functions (LMNA as the gene responsible for an autosomal recessive form of axonal neuropathy (CMT2B1) and, more recently, FRABIN/FGD4 in CMT4H); ii) Laminopathies constitute a specific project, in particular in the field of premature ageing for which the Progeria clinical trial has started in 2008 and iii) the physiopathology of some muscular dystrophies (Calpainopathies, Dysfelinopathies, and FSH) constitute the 3rd main theme of my research laboratory at Inserm. These three research activities are tightly connected to his clinical/diagnosis activities and his objective, together with the groups working hard with him, and thanks to the close national and international collaborations, is to better understand the patho-physiology of these rare diseases and ultimately to be able to propose some therapeutic solutions.

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 biotetch 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.

Today, the two bigger projects Patrice is involved in are NMD-Chip from one hand, and the Progeria clinical trial from the other hand.

Beside these hospital acitivities, he teaches embryology, molecular and cellular biology, and he's also a chorist professionnal singer, giving operetta performances!

Marc has a recognized expertise in physiopathological studies of muscular dystrophies and gene transfer. He has in particular vast experience on limb-girdle muscular dystrophies. He has undertaken several studies on the function and physiopathology of the proteins involved in these diseases and successfully demonstrated the efficiency and safety of gene transfer for LGMD2A, B and D. Marc has also developed several new tools to study the function of calpain 3 and dysferlin in vitro and in vivo and methods for monitoring gene transfer efficiency. Finally, Marc acquired new bioinformatics skills to handle the design of DNA-chip and the data analysis of those experiments.

Marc is involved in the WP3 "Design, production and technical validation of candidate genes targeted Chips", in particular he will help to choose the more relevant candidate genes for LGMDs and design the DNA-chip.

Rafaëlle Bernard, Associate Professor, supervisor of the daily molecular diagnosis activities on NMDs. They have an outstanding experience in the field and in associated genetic counselling. Reference laboratory for CMT and LGMD.

Christophe Béroud (PharmD, PhD): has 18 years experience in research laboratories and is an expert in bioinformatics (LSDBs) and molecular biology (diagnostic of DMC). He is the curator of the UMD-LAMA2 database. He has published 53 international papers and has 5 patents. He is involved in 2 standardisation committees (National and International).

Mireille Claustres (Full professor, MD, PhD): has created the Laboratory of molecular genetics that is a reference for molecular diagnosis of CF, DMD, DMC, deafness, blindness and PGD. She has published 142 international papers and 60 others. She received 6 awards and is involved in 10 standardisation committees (National and International).

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.

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.