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Research Groups
Group U704
Programme: Sensorineural Pathology Lead Researcher: Ayuso, Carmen
Group members
STAFF MEMBERS: Gomez Sánchez, Clara Isabel | Sánchez Alcudia, Rocío | Zurita Muñoz, Olga.
ASSOCIATED MEMBERS: Blanco Kelly, Fiona | Bustamante Aragones, Ana | Cardero Merlo, Rocío de la Libertad | Cortón Pérez, Marta | Díaz Recasens, Joaquín | Fernández Moya, José María | Fernández San José, Patricia | Gallego Merlo, Jesús | García Sandoval, Blanca | Giménez Pardo, Ascension | Infantes Barbero, Fernando | Lorda Sánchez, Isabel | Martín Mérida, Inmaculada | Pérez Carro, Raquel | Perlado Marina, Sara | Plaza Arranz, Francisco Javier | Ramos Corrales, Carmen | Riveiro Álvarez, Rosa | Rodríguez de Alba Freiria, Marta | Sánchez Navarro, Iker | Trujillo Tiebas, María José | Villaverde Montero, Cristina.
Main lines of research
• Hereditary retinal dystrophies: identification of new genes and mutational mechanisms, geno- type–phenotype correlation, genetic epidemiolo- gy, modifying genetic factors and development of algorithms.
• Complex neurodegenerative diseases: omic ap- proach models.
• Pharmacogenetics.
• Qualitycontrolovergeneticandgenomicstudies. Ethical aspects and informed consent.
• Infertility:Geneticandchromosomalfactors.
• Non-invasive prenatal diagnosis applied to Men- delian and aneuploidy disorders.
• Genetic cardiovascular diseases: sudden death and cardiomyopathy.
• Ocular malformations, aniridia, anophthalmia, glaucoma and others.
• Neuromuscularandneurologicaldiseases.
• Congenitalskeletalabnormalities.
• Therapeutic aspects: Pharmacogenetics, IPSC and Clinical Trials.
46 I Annual report 2015 I CIBERER
