GENETHON has been recognised as a pioneer in the fields of gene therapy and vector technology since 1996. The impacts of its innovations in these fields include creation of GENOPOLE® in 1998. Moreover, Evry is now the largest bio-park in the EU gathering the major French public institutions (CNRS, INSERM, CEA, INRA), the University of Evry and 51 SMEs employing about 2000 people. An estimated 180 persons are involved in the research, development and production activities organised into three distinct and interacting departments:

Exploratory Research (REX) involving research units of the CNRS and INSERM with basic exploratory research programmes on vectorology (vectorisation, administration, physical chemistry, integration and chromatin assembly effects), muscle and nervous system biology and therapy, immunology and the hematopoiesis platform).

Research and Development with clinically interfaced R&D projects and ETGC (Etablissement de Thérapie Génique et Cellulaire), a GMP production facility for vectors and cell lines.

The Limb Girdle Muscular Dystrophies Laboratory located at Genethon was initially involved in the positional cloning of muscular dystrophies.

Fifteen years ago, they identified the first locus involved in a limb-girdle muscular dystrophy and since then, they have participated in the identification of the genes involved in 9 different muscular dystrophies.

Following this initial step, they undertook studies on the function of the corresponding LGMD proteins and the pathophysiology of LGMD. In particular, they have initiated a large-scale project to identify partners of the LGMD proteins by the two-hybrid-technique. In parallel with these functional studies, they successfully demonstrated the efficiency of gene transfer for two of these diseases.

Genethon Website

Since her PhD studies in 1991, Isabelle has been working on Limb Girdle Muscular Dystrophies: identification of the genes and study of their protein functions to identify pharmacological solutions, development of animal models and investigation of gene transfer by gene therapy.

Isabelle is now the head of a group of 15 researchers / technicians. 

Her group leads Workpackage 3 which as group coordinator should integrate the efforts of the different partner groups. The common objective is the identification of a list of the most likely candidate genes for not-yet identified forms of each of the three different groups of diseases: CMT, CMD and LGMD. Specifically, the group is focused on the selection of a set of candidate genes for LGMD. The defined lists of candidate genes for the three groups of pathologies will be collected by our group to procede to NMD-chip design, technical validation and data analysis. Independent chips will be designed for each group of pathologies.
 

Chargé de Recherche au laboratoire Dystrophies des Ceintures.
PhD in Biology at University of Barcelona (2003).

Rafael has developed a scientific career on the genomic analysis of human complex disorders.

Through genetic dissecting methods, he has explored and identified genetic allelic and genomic risk factors that increase disease  susceptibility and interacts with environmental risk factors.