GIUV2013-160
Our research activity is mainly focused 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 type 1F (LGMD1F). For this purpose, we preferentially used Drosophila as the initial experimental animal, whose genome we manipulated to create suitable models for these studies. We then go on to validate the results obtained with this animal in cell cultures, murine models or human samples. In relation to this, one of our priority objectives is the identification and development of drugs both from repositioning strategies and drugs based on RNA oligonucleotides.
- 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.
- Discovery and development of drugs 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 repositioning.
- Study of the molecular basis of the cardiac phenotype of DM1.
- Human Translational Genomics.Our research activity focuses on studying mechanisms of pathogenesis and discovering potential drug therapies for diseases of genetic origin, in particular myotonic dystrophy, spinal muscular atrophy and breast cancer.
| Name | Nature of participation | Entity | Description |
|---|---|---|---|
| RUBEN DARIO ARTERO ALLEPUZ | Director | Universitat de València | |
| Research team | |||
| MANUEL PEREZ ALONSO | Member | Universitat de València | |
| IRENE GONZALEZ MARTINEZ | Member | Universitat de València | |
| ARTURO LOPEZ CASTEL | Member | Universitat de València | |
| ESTEFANIA CERRO HERREROS | Collaborator | ARTHEX BIOTECH, S.L. | Research director |
| NICOLAS CHARLET BERGUERAND | Collaborator | Institut Génétique Biologie Moléculaire Cellulaire (Francia) | Researcher |
| ADOLFO LOPEZ DE MUNAIN | Collaborator | Hopital Donostia-Biodonostia (San Sebastian) | Head of section/service |
| JAVIER RAMON AZCON | Collaborator | INSTITUCIO CATALANA DE RECERCA I ESTUDIS AVANÇATS - ICREA | Professor |
| MATTHEW WOOD | Collaborator | Oxford University | Full university professor |
| GENEVIÈVE GOURDON | Collaborator | Institut National de la Sante Et de la Recherche Medicale | Researcher |
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- Univ. Institute Biotechnology and Biomedicine (BIOTECMED)
- MUSCLEBLIND
- MYOTONIC DYSTROPHY
- ALTERNATIVE SPLICING
- DRUG DISCOVERY
- TOXIC RNA
- SPINAL MUSCULAR ATROPHY
- BIOBAMARKER
- DEVELOPMENT OF THERAPIES
- MIRNA
- OLIGONUCLETIDES
