Our research activity focuses on studying mechanisms of pathogenesis and discovering potential drug therapies for rare diseases of genetic origin, in particular Myotonic Dystrophy (DM1 and DM2), Spinal Muscular Atrophy (SMA) and Limb-Girdle Muscular Dystrophy (LGMDD2). To this end, we used Drosophila as an initial experimental model, whose genome we manipulated to create suitable models for our studies. We apply the results obtained in cell cultures, murine models or human samples. One of our main objectives is to identify and develop drugs from both repositioning strategies and RNA oligonucleotide-based drugs.
- Identification and validation of new molecular pathways involved in the onset and progression of muscle atrophy in DM1.
- Discovery and development of therapeutic gene modulators based on RNA oligonucleotides in DM1.
- Development of the first disease models for LGMDD2 in Drosophila melanogaster and mouse.
- Drug discovery and development for Myotonic Dystrophy type 1 (DM1), Spinal Muscular Atrophy (SMA) and Limb-Girdle Muscular Dystrophy (LGMDD2), using Drosophila and mouse models, through the design of next-generation therapies and drug repurposing.
- Study of the molecular basis of the cardiac phenotype of DM1
Our research activity focuses on studying mechanisms of pathogenesis and
discovering potential drug therapies for diseases of genetic origin, in particular Myotonic Dystrophy (DM1 and DM2), Spinal Muscular Atrophy (SMA) and Limb-Girdle Muscular Dystrophy (LGMDD2).
Partners
- Nicolás Charlet Berguerand - Institut Génétique Biologie Moléculaire Cellulaire (Francia)
- Geneviève Gourdon - Institut National de la Sante et de la Recherche Medicale (Francia)
- Adolfo López de Munain - Hopital Donostia-Biodonostia (San Sebastian)
- Javier Ramón Azcón - Institució Catalana Recerca i Estudis Avançats (Barcelona)
- Matthew Wood - Oxford University (UK)
Burjassot/Paterna Campus
C/ Doctor Moliner, 50
46100 Burjassot (Valencia)
