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RESEARCH GROUPS
Group U756
Programme: Sensorineural Pathology
Lead Researcher: Montoliu José, Lluís Group Members
STAFF MEMBERS: Fernández López, Almudena
ASSOCIATED MEMBERS: Cantero González, Marta María | Fernández Punzano, Juliana | Josa de Ramos, Santiago | Martínez García, Mónica | Montalbán Iglesias, Soledad | Sánchez Sánchez, Óscar Javier | Seruggia, Davide
Main lines of research
• Animal models of congenital hypopigmentation diseases: oculocutaneous albinism type I and ocular albinism .
• ALBINOCHIP: Design and validation of a new system for the genetic diagnosis of all the mutations known associated with any type of albinism .
• New animal model of achromatopsia involved in the cone deficit phenotype observed in the commer- cial albino mice with no blood relations .
• Optimization of methodologies in animal transgenesis: new methods CRISPR-Cas9, protocols and techniques for more efficient generation, analysis and cryopreservation of animal models .
• Pre-clinical therapeutic proposals for albinism, use of L-DOPA and nitisinone in mouse models . • Mechanism of action of L-DOPA in retinal development in mammals .
172 CIBERER » Annual report 2014
