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RESEARCH GROUPS
Group U704
Programme: Sensorineural Pathology
Lead Researcher: Ayuso, Carmen Group Members
STAFF MEMBERS: Avila Fernández , Almudena | Zurita Muñoz, Olga
ASSOCIATED MEMBERS: Blanco Kelly, Fiona | Bustamante Aragonés, Ana | Cardero Merlo, Rocío de la Li- bertad | Cortón Pérez, Marta | Díaz Recasens, Joaquín | Fernández Moya, José María | Fernández San José, Patricia | Gallego Merlo, Jesús | García Sandoval, Blanca | Giménez Pardo, Ascensión | Gómez Sánchez, Cla- ra Isabel | Infantes Barbero, Fernando | Lorda Sánchez, Isabel | Perlado Marina, Sara | Plaza Arranz, Francisco Javier | Ramos Corrales, Carmen | Riveiro Álvarez, Rosa | Rodríguez de Alba Freiria, Marta | Sánchez Alcudia, Rocío | Sánchez Navarro, Iker | Trujillo Tiebas, María José | Villaverde Montero, Cristina
Main lines of research
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Hereditary retinal dystrophies: identification of new genes and mutational mechanisms, genotype–phe- notype correlation, genetic epidemiology, modifying genetic factors and development of algorithms .
Complex neurodegenerative diseases: omic approach models . Pharmacogenetics . Quality control over genetic and genomic studies . Ethical aspects and informed consent . Infertility: Genetic and chromosomal factors . Non-invasive prenatal diagnosis applied to Mendelian and aneuploidy disorders . Genetic cardiovascular diseases: sudden death and cardiomyopathy . Ocular malformations, aniridia, anophthalmia, glaucoma and others . Neuromuscular and neurological diseases . Congenital skeletal abnormalities . Therapeutic aspects: Pharmacogenetics, IPSC and Clinical Trials .
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CIBERER » Annual report 2014
