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Home >> R&D Projects >> Cetegen

CTG (2007-2010)

http://bioinfo.cipf.es/myotonic_dystrophy/index.php/Home

“New therapeutic approaches for myotonic dystrophy: functional genomics and in vivo drug discovery studies” addresses a primarily neuromuscular disease from the functional genomics point of view.

Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life. DM is a multi-system disease which involves up to 14 organic systems including cardiovascular, ocular, nervous and muscular systems. Core features of myotonic dystrophy are myotonia (difficulty relaxing a muscle), muscle weakness, cataract, and cardiac conduction abnormalities. Most notably, the highly variable age of onset decreases with successive generations. Thus the disease shows at an earlier age in successive generations a phenomenon termed anticipation.

TOTAL BUDGET: 2.002.500 €
Genoma España	400.000 €
Government of Valencia (Generalitat Valenciana)	500.000 €
University of Valencia (UV) (in-kind contribution)	12.860 €
Valentia Biopharma (VLT) (in-kind contribution)	247.640 €
Sistemas Genómicos (in-kind contribution)	380.000 €
University Institute for Innovation and Technological Development (IUCT) (in-kind contribution)	312.000 €
Biomar Institute (in-kind contribution)	150.000 €

PARTICIPATION
Researchers	43
Research Groups	8
Public Institutes	3
Companies	4

Project Objectives

Functional genomics in DM: global analyses of the molecular targets of MBNL1 and CUG-BP1 proteins;
Large-scale genetic screen for dominant modifiers of a CUG-dependent phenotype in animal models;
Transcriptional regulation of muscleblind-like (MBNL) genes;
Development of a new FRET (fluorescence resonance energy transfer)-based diagnostic method for DM; and
Identification of candidate drugs for the treatment of myotonic dystrophy.