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Research Groups
Group U755
Programme: Sensorineural Pathology
Lead Researcher: Millán Salvador, José María
Group members
STAFF MEMBERS: Aller Mañas, Elena | Olivares González, Lorena.
ASSOCIATED MEMBERS: Aparisi Navarro, María José | Jaijo Sanchís, Teresa | Morera Pérez, Constantino |
Pérez Garrigues, Herminio | Rodrigo Nicolás, Regina | Sequedo Pérez, María Dolores | Vázquez Manrique, Rafael.
Main lines of research
• Usher (USH) syndrome: molecular analysis of the genes involved in Usher syndrome by means of NGS, translation to diagnosis and therapeutic ap- proaches based on gene therapy.
• Experimentalmodelsofretinaldegeneration:role of oxidative stress and inflammation in neurode- generation. Pharmacological therapy testing be- fore translational application.
• Translational genomics and identification of bio- markers for the diagnosis of Charcot Marie Tooth neuropathy.
• Identification of prognostic biomarkers for spinal muscular atrophy.
• SearchforHuntington’sdiseasemodifyinggenes in a model of the disease in C. elegans.
• Editing the huntingtin gene in patients’ cells by means of CRISPR/Cas9.
142 I Annual report 2015 I CIBERER
