CETEGEN. New Approaches for the Treatment of Myotonic Dystrophy.

 PLAZO PROYECTO 

2007

PRESUPUESTO 

3.000.000€

SOCIOS

Universidad de Valencia, Sistemas genómicos, Valentia Biopharma, Instituto Biomar, Institut Univ de Ciencia y Tecnologia, Centro de Investigación Príncipe Felipe

FINANCIACIÓN 

Genoma España

EXPEDIENTE 

GE-2007

LIDER DEL PROYECTO

Ruben Artero

OBJETIVO GENERAL

From the description of the myotonic dystrophy pathogenesis two priorities arise in the development of an effective treatment: (1) the need for a complete description of the molecular alterations in DM1, which identify additional therapeutic targets; and (2) the need for testing molecules able to suppress DM-like defects in vivo that could potentially develop into effective human treatments.

OBJETIVOS ESPECÍFICOS

We will develop a new diagnostic method based on the use of fluorescent PNA probes flanking a splice event altered in patients. These probes undergo FRET if close together, but can not experience FRET if separated by an intron or alternative exon. This method may potentially be of general application to the study of other splice abnormalities. We will also generate a defined myotonic dystrophy array, which simultaneously provides readout of the molecular alterations present in an individual patient and could be used as a biomarker of effectiveness in potential subsequent preclinical and clinical drug trials.