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leaD reSearcHer
Montoliu Jose, Lluis
Agencia Est. Consejo Superior de Investigaciones Científicas C. Nacional de Biotecnologia Universidad Aut. de Madrid Dpto. de Biología Molecular
y Celular. Cantoblanco. c/ Darwin, 3.
28049 Madrid
(+34) 91 585 48 44 [email protected] group website
GROUP MEMBERS
Staff members: Fernández López, Almudena
Associated members: Cantero González, Marta María | Fernández Punzano, Juliana | Josa De Ramos, Santiago | Montalbán Iglesias, Soledad | Sánchez Sánchez, Oscar Javier
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 commercial 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.
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PROGRAMMES
Sensorineural Pathology