Page 174 - MemoriaER-Eng

RESEARCH GROUPS

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PROGRAMME:
Group U755
Sensorineural Pathology

Group Members
Lead Researcher

Milln Salvador, José M.
STAFF MEMBERS
Aller Maas, Elena

Jaijo Sanchis, Teresa
Contact:
ASSOCIATED MEMBERS
Hospital U La Fe/ Unidad de Genética
Avda. Campanar, 21. 46009 Valencia Aparisi Navarro, Ma Jos
Morera Prez, Constantino
Phone: (+34) 96 197 31 53
E.mail: [email protected]
Prez Garrigues, Herminio
Rodrigo Nicols, Regina
Website: www.iislafe.es
Sequedo Prez, Ma Dolores
Vzquez Manrique, Rafael
Main lines of research
Vilela Soler, Concepcin

• 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.

• Experimental models of retinal degeneration: role of oxidative stress and
inflammation in neurodegeneration. Pharmacological therapy testing befo- 13
20
re translational application.
T
R
• Translational genomics and identification of biomarkers for the diagnosis of PO
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Charcot Marie Tooth neuropathy.
L R
A
• Identification of prognostic biomarkers for spinal muscular atrophy. NU
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• Search for Huntington’s disease modifying genes in a model of the disease
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in C. elegans. ER
ER
• Editing the huntingtin gene in patients’ cells by means of CRISPR/Cas9.
B
CI

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