Page 143 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
nagY ai*, VáZqueZ-manrique rP*, lóPeZ m, christoV cP, sequedo md, herZog m, herlihY ae, BodaK m, gatsi r, BaYlis ha.. IP3 signalling regulates exogenous RNAi in Caenorhabditis elegans. EMBO Rep. 2015; 16(3): 341-50. * Ambos autores han contribuido igualmente
aYuso c, millán Jm, dal-ré r. Management and return of incidental genomic findings in clinical trials. The Pharma- cogenomics Journal. 2015; 15 (1): 1-5
Blanco-KellY F, JaiJo t, aller e, áVila-FernándeZ a, lóPeZ molina mi, JiméneZ a, garcía sandoVal B, millán Jm*, aYuso c*. Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients. JAMA Oph- thalmol. 2015; 133 (2): 157-64. *Ambos autores han con- tribuido igualmente
Highlights
We have been granted with five projects to continue our research in retinal dystrophies, both in terms of diagnosis, identification of new genes and therapeu- tic approaches.
Therapeutic Approaches for retinitis pigmentosa and Usher syndrome based on Genome-Editing by CRISP/Cas9. Telemarathon “Todos somos raros.”
molecular genetic diagnosis of hereditary retinal dystrophies by massive next-generation sequencing (NGS). ONCE Foundation.
Application of nanotechnology to the treatment of retinitis pigmentosa with anti-TNFa antibodies. syn- ergy with antioxidants. ISCIII.
molecular genetic diagnosis of Leber congenital amaurosis by massive next-generation sequencing (NGS). Mutua Madrileña.
Identification of new genes and molecular mecha- nisms Usher syndrome and their translation to the diagnosis. Valencian Council of Health.
We have initiated several projects closely related to the translation to the clinic (clinical trials) and R + D + i Technology applied to rare diseases:
gonZáleZ-del PoZo m, BraVo-gil n, méndeZ-Vidal c, montero-de-esPinosa i, millán Jm, doPaZo J, Borrego s, antiñolo g. Re-evaluation casts doubt on the pathogenic- ity of homozygous USH2A p.C759F. Am J Med Genet A. 2015; 167 (7): 1597-1600
martíneZ-FernándeZ de la cámara c, hernándeZ-Pinto am, oliVares-gonZáleZ l, cueVas-martín c, sáncheZ- aragó m, herVás d, salom d, cueZVa Jm, de la rosa eJ, millán Jm, rodrigo r. Adalimumab reduces photore- ceptor cell death in a mouse model of retinal degenera- tion. Scientific Reports. 2015; 5:11764
“Development of a new biomarker in Huntington’s disease by analysis of the morphology of the retina.”
Effect of the AMPK activator effect, metformin, on motor and cognitive ability of patients Huntington’s disease.
Baculovirus encoding guided-RNA nucleases as a versatile tool to edit genes of biomedical interest funded by the University of Valencia and IIS-La Fe nucleases.
Polymer systems as support of monoclonal anti- bodies for the treatment of retinitis pigmentosa. IIS- La Fe-RETIC.
Cristina Martínez Fernández defended her doctoral thesis “Role of oxidative stress and inflammation in retinitis pigmentosa. Effect of inhibition of TNF-al- pha in the progression of retinal degeneration “su- pervised by Rodrigo Regina and presented at the Polytechnic University of Valencia.
Institution: Fundación para la Investigación del Hospital la Fe · Contact: Hospital Universitario de La Fe Avda Fernando Abril Martorell, 106. 46009 Valencia. · Tel.: 96 197 31 53 · E.mail: [email protected] Website: http://www.iislafe.es
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