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leaD reSearcHer
Ayuso, Carmen
Instituto de Investigación Sanitaria fund . Jiménez Díaz Instituto de Investigación Sanitaria - Fund. Jiménez Díaz Avda. Reyes Católicos, 2 28040 Madrid
(+34) 91 550 48 72 / 73 [email protected]
group website
GROUP MEMBERS
Staff members: Gómez Sánchez, Clara Isabel | Zurita Muñoz, Olga
Associated members: Ávila Fernández , Almudena | Blanco Kelly, Fiona | Bustamante Aragonés, Ana
| Cardero Merlo, Rocío de la Libertad | Corton Pérez, Marta | Díaz Recasens, Joaquín | Fernández Moya,
Jose María | Gallego Merlo, Jesús | García Sandoval, Blanca | Giménez Pardo, Ascensión | Infantes Barbero, Fernando | Lorda Sánchez, Isabel | Martín Mérida, Inmaculada | Pérez Carro, Raquel | Plaza Arranz, Francisco Javier | Ramos Corrales, Carmen | Riveiro Álvarez, Rosa | Rodríguez del Alba Freiria, Marta | Sanchez Jimeno, Carolina | Sánchez Navarro, Iker | Trujillo Tierras, María José | Villaverde Montero, Cristina
Main lines of research
• Hereditary retinal dystrophies: identification of new genes and mutational mechanisms, genotype– phenotype 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, cardiomyopathy and malformations.
• 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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PROGRAMMES
Sensorineural Pathology Genetic Medicine