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Most relevant scientific articles
• Perez-Carro R., Corton M., Sanchez-Navarro I., Zurita O., Sanchez-Bolivar N., Sanchez-Alcudia R. et al. Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa. Scientific Reports. 2016;6.
• Blanco-Kelly F., Garcia Hoyos M., Lopez Martinez M.A., Lopez-Molina M.I., Riveiro-Alvarez R., Fernandez-San Jose P. et al. Dominant retinitis pigmentosa, p.Gly56Arg mutation in NR2E3: Phenotype in a large cohort of 24 cases. PLoS ONE. 2016;11(2).
• Olivares-Gonzalez L., De La Camara C.M.-F., Hervas D., Marin M.P., Lahoz A., Millan J.M. et al. CGMP-phosphodiesterase inhibition prevents hypoxia-induced cell death activation in porcine retinal explants. PLoS ONE. 2016;11(11).
• Tell-Marti G., Puig-Butille J.A., Gimenez-Xavier P., Segu-Roig A., Potrony M., Badenas C. et al. The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington’s Disease Patients. Molecular Neurobiology. 2016;1-5.
• Perez-Carro R, Corton M, Sánchez-Navarro I, Zurita O, Sanchez-Bolivar N, Sánchez-Alcudia R et al. Corrigendum: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.Scientific reports. 2016; 6:24843.
Hightlights
As relevant milestones of 2016 we have achieved a FIS project for genomic studies, preclinical and clinical studies for Usher syndrome in order to apply a precision medicine both in this syndrome and in inherited retinal dystrophies (IRD) in general. In this regard, we have developed a panel that includes all the genes associated with IRD and 96 patients, many of them pediatric, have already been analyzed. In the same way, we have developed a panel that includes all the genes related to muscular dystrophies.
We have participated in the Clinical Practice Guide for Retinal Dystrophies requested by the Ministry of Health.
We have an ongoing clinical trial on the effect of nutraceuticals in patients with retinitis pigmentosa (RP). We have tested the protective effect of DEMOG (inhibitor of hypoxia inducible factor, HIF) on retinas of a murine model of RP.
We have been able to edit fibroblasts from patients with Usher syndrome using the CRISPR technology and we have corrected the mutation c.2299delG of the USH2A gene.
We are analyzing the use of inorganic nanoparticles as a vehicle to deliver adalimumab (which we have already shown to have a protective effect) on the retina of a murine model of RP.
The patent with the title “Use of macroazapyridinophanes metal complexes in the treatment of neurodegenerative and age-related diseases” has been requested (in collaboration with an Spin-off of the Medical Research Institute La Fe).
We investigated the protective effect of metformin in Huntington’s disease models of C.elegans and mice and its effect on the behavior of Huntington’s disease patients recruited in the international observational study REGISTRY has been investigated.
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