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.
- Identificacion y validacion de nuevas rutas moleculares implicadas en la aparicion y progresion de la atrofia muscular en DM1.
- Descubrimiento y desarrollo de moduladores genicos terapeuticos basados en oligonucleotidos de ARN en DM1.
- Desarrollo de los primeros modelos de enfermedad para LGMDD2 en Drosophila melanogaster y raton.
- Descubrimiento y desarrollo de farmacos para Distrofia Miotonica tipo 1 (DM1), Atrofia Muscular Espinal (AME) y Distrofia Muscular de Cinturas (LGMDD2), utilizando modelos de Drosophila y de raton, mediante el diseño de terapias de ultima generacion y del reposicionamiento de farmacos.
- Estudio de las bases moleculares del fenotipo cardiaco de 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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- ERI Biotechnology and Biomedicine (BIOTECMED)
- Muscleblind; miRNA; biomarcador; Distrofia Miotónica; Atrofia Muscular Espinal; splicing alternativo; ARN tóxico; descubrimiento de fármacos; desarrollo de terapias; oligonucleótidos; fármacos de RNA; SMN; TNPO3; LGMDD2; MSI2; caquexia
