Page 112 - CIBERER2016-ENG
P. 112
leaD reSearcHer
Millán Salvador, José María
Fund. para la Investigación del Hospital la Fe
Avda. F. Abril Martorell, 106 46009 Valencia
(+34) 96 197 31 53 [email protected] group website
GROUP MEMBERS
Staff members: Garcia García, Gema | Olivares González, Lorena
Associated members: Aller Mañas, Elena | Aparisi Navarro, María José | Jaijo Sanchís, Teresa | Morera Pérez, Constantino | Pérez Garriguez, 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 approaches based on gene therapy.
• Experimental models of retinal degeneration: role of oxidative stress and inflammation in neurodegeneration. Pharmacological therapy testing before translational application.
• Translational genomics and identification of biomarkers for the diagnosis of Charcot Marie Tooth neuropathy.
• Identification of prognostic biomarkers for spinal muscular atrophy.
• Search for Huntington’s disease modifying genes in a model of the disease in C. elegans.
• Editing the huntingtin gene in patients’ cells by means of CRISPR/Cas9.
112
PROGRAMMES
Sensorineural Pathology