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Oculopharyngeal muscular dystrophy: a paradigm to investigate new pharmaco-therapeutic approaches to trinucleotide-expansion diseases and muscular dystrophies

Objective

The goal of this proposal is to use oculopharyngeal muscular dystrophy (OPMD) as a paradigm to investigate new phannaco-therapeutic approaches based on genorne- and proteome-wide surveys of nonnal and dystrophic muscle. We will screen for genes/proteins capable of suppressing the dystrophic muscle phenotype. Selected candidates will represent the basis for developing a human gene therapy program. To reach this goal, we will generate cellular and animal models amenable to genetic screens and manipulations, and will construct DNA and protein microarrays to compare gene expression profiles in normal and dystrophic muscle. If a particular protein is found under-expressed in disease muscle we will isolate the corresponding cDNA and induce its over-expression in OPMD transgenic mouse model. Additional candidates for human gene therapy are expected to be identified by a genetic screen based on modification of the phenotype in the OPMD Drosophila model.

Funding Scheme

CSC - Cost-sharing contracts

Coordinator

FUNDACAO DA UNIVERSIDADE DE LISBOA
Address
Avenida Prof. Egas Moniz
1649-028 Lisboa
Portugal

Participants (5)

CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE
France
Address
Rue De La Cardonille 141
34396 Montpellier
LEIDEN UNIVERSITY
Netherlands
Address
Wassenaarseweg 72
2333 al Leiden
MARTIN-LUTHER-UNIVERSITAET HALLE-WITTENBERG
Germany
Address
Kurt-mothes-strasse 3
06120 Halle (Saale)
UNILEVER NEDERLAND BV
Netherlands
Address
120,Olivier Van Noortlaan 120
3133 AT Vlaardingen
UTRECHT UNIVERSITY
Netherlands
Address
Padualaan 8
3584 CH Utrecht