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Research Groups
Group U756
Programme: Sensorineural Pathology Lead Researcher: Montoliú José, Lluis
Group members
STAFF MEMBERS: Fernández López, Almudena.
ASSOCIATED MEMBERS: Cantero González, Marta María | Fernández Punzano, Juliana | Josa de Ramos,
Santiago | Montalban Iglesias, Soledad | Sánchez Sánchez, Óscar Javier | Seruggia, Davide.
Main lines of research
• Animal models of congenital hypopigmentation diseases: oculocutaneous albinism type I and oc- ular albinism.
• ALBINOCHIP:Designandvalidationofanewsys- tem 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 com- mercial albino mice with no blood relations.
• Optimization of methodologies in animal trans- genesis: 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 develop- ment in mammals.
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