The department 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. INSERM is also involved in the exon-skipping approach of the DMD gene.

In addition, the laboratory to be involved in TREAT-NMD 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.

The INSERM is a Board Member of the HGVS since its creation (CB); Communicating Editor of Human Mutations (MC); Member/Assessor of the European Molecular Genetics Quality Network (MC, AFR); Scientific committees of the INSERM (MC), AFM (MC), VLM (MC), SOS-RP (MC), CNRS (MC) University (MC); Governmental health organization and national council of universities (MC); Vice president of the French Society of Genetics (MC).

It has organised a national workshop on DMD 1998 (MC), and national workshops on CF 1999, 2000, 2005 (MC). Organization of HUGO Mutation Training Course (MTC) in Montpellier 2002 (MC), Teacher in all HUGO MTC (MC) in HUGO MTC 2000 (STG) and in HUGO MTC 2002 and 2004 (CB). The INSERM will organise the French 'Assises de Génétique' 2006 (MC). Curators of Locus Specific Databases for the LAMA2, VHL, DMD, FBN1, FBN2, TGFßR2, MYO7A, CDH23, PCDH15, SANS, USH1C, USH2A, USH3A genes (CB, GCB, STG, AFR, MF, CM).

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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).

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 curator of the UMD-LAMA2 database. 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 (TREAT-NMD, GEN2PHEN, BIO-NMD and NMD-CHIP).
 

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. She is one of the curators of the UMD-DMD database. She has published 44 international papers and she received one award. She is involved in one National standardisation committee.