Project partners

Institut National de la Sante et de la Recherche Medicale

INSERM - Montpellier



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

INSERM's website

Contact: Christophe Béroud
Email Christophe

INSERM UMR_S910,
Faculté de Médecine La Timone, 4ème étage,
27 boulevard Jean Moulin 13385
Marseille Cedex 05

France
Tel +33 (0)491324927

 

INSERM - Marseille



The Hôpital d'Enfants de la Timone (Children's Timone Hospital) is one of the most important hospitals in France in terms of  the number of specialities. It is strongly linked to medical research units on the same campus (in the Medical Faculty). In particular, the Genetic Department works together with the INSERM UMR 910, both directed by Prof. 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. INSERM is also involved in several clinical trials, one of the most important being the Progeria trial, which they have entirely designed and managed, from bench to bed. 

INSERM's website

Contact: Nicolas Levy
Email Nicolas

Inserm U491 - Génétique Médicale et Développement
Faculté de Médecine de la Timone
13385 Marseille Cedex 05,
France

Phone +33 4 91 78 68 94
Fax +33 4 91 80 43 19

 

 

INSERM and BIO-NMD

INSERM is the leader of work package 6 - Bioinformatic tools for identifying functional pathways, potential targets and data outflow integration - and will also be involved in WPs 2 - Genomic biomarkers discovery by genome-wide analyses of DNA and RNA and 4 - Exploratory biomarkers validation in humans. They will provide the project with patient cohorts and expression analysis in order to validate the specificity of discovered biomarkers (WP2). They will also participate in the in vitro validation of genetic variations (WP4). As part of WP6, INSERM will create new bioinformatics tools and databases to handle data generated during the project.

 

Christophe Béroud - Assistant professor, Laboratoire de Génétique Moléculaire and INSERM U827



Christophe Béroud (PharmD, PhD) has 22 years experience in research laboratories and is an expert in bioinformatics (LSDBs) and molecular biology (diagnostic of DMC). He is the creator of the UMD system and many other bioinformatics tools. He is the U827 bioinformatics' team leader.

He has published 78 international papers and has 5 patents. He is involved in 5 standardisation committees (National and International) and is the scientific team leader of 4 EU projects: European Network of Excellence (NoE FP6) TREAT-NMD (2007-2011, n°036825); European project (FP7) GEN2PHEN (2008-2012, n° 200754), European project (FP7) NMD-CHIP (2009-2011, n° 223026); European project (FP7) BIO-NMD (2009-2011, n° 20092441).

 

Gwenaëlle Collod-Béroud



Gwenaëlle Collod-Béroud (PhD) is a senior research associate, INSERM U827.

Gwenaëlle has 19 years experience in research laboratories working on human genetic diseases and has been involved in LSDBs since 1995. She has worked on Marfan syndrome and demonstrated the involvement of the TGFBR2 gene in the disease.

She is the curator of 4 LSDBs: UMD-FBN1, UMD-FBN2, UMD-TGFBR2 and UMD-TGFBR1. Leader of a research group on dystonia, she is also involved in the bioinformatics team. She has published 32 international papers, has 1 patent and is involved in 4 EU projects: European Network of Excellence (NoE FP6) TREAT-NMD (2007-2011, n°036825); European project (FP7) GEN2PHEN (2008-2012, n° 200754), European project (FP7) NMD-CHIP (2009-2011, n° 223026); European project (FP7) BIO-NMD (2009-2011, n° 20092441).

 

Karine Delétang



Karine Deletang (PhD) is a laboratory manager, INSERM U827. Karine has 10 years experience in research laboratories (public and private companies).  Among her many responsibilities, she is in charge of administrative aspects of EU projects and she organizes various events including training courses and meetings.

 

Dalil Hamroun



Dalil Hamroun (PhD) has 18 years experience in research laboratories and is an expert in bioinformatics (LSDBs and registries). He has been a Bioinformatics Engineer in the Molecular Genetics Laboratory of the Montpellier University-Hospital since 2003 and a Member of the Bioinformatics team leaded by Christophe Beroud (INSERM U827).

He has created many databases for various French networks and is involved in 4 International EU projects: European Network of Excellence (NoE FP6) TREAT-NMD (2007-2011, n°036825); European project (FP7) GEN2PHEN (2008-2012, n° 200754), European project (FP7) NMD-CHIP (2009-2011, n° 223026); European project (FP7) BIO-NMD (2009-2011, n° 20092441). He has published twenty international papers.

 

Nicolas Levy



Nicolas Levy is:

•    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 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. This diagnosis activity has allowed the identification of large cohorts of patients, perfectly characterized at the molecular level, and who will therefore 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 mutation types.

Also Nicolas has kept up his clinical activity with patients in the context of specific consultations for NMDs for whom our center has recently been designated as a referral center for NMDs. As a researcher, he developed three main projects;

i) in the field of CMT, they 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 started in 2008 and

iii) the physiopathology of some muscular dystrophies (Calpainopathies, Dysfelinopathies, and FSH) constitute the 3rd main theme of his 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.
 

 

Sylvie Tuffery



Sylvie Tuffery is Research Ingenior in the Laboratory of Molecular Genetics, Inserm U827 (Director : Prof. Mireille Claustres) at the Faculty of Medicine of Montpellier, France.

Sylvie's research areas include molecular pathology of the Duchenne muscular Dystrophy (DMD) gene, splicing defects in human diseases genes, transcripts analysis and in vitro RNA studies. She is also curator of the French national DMD database (UMD-DMD).

 
 




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