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Most relevant scientific articles
• alias l, barceló mJ, bernal s, martinez r, alsó e, millán Jm, baiGet m, tizzano e . Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene . Clin Genet . 2014 85: 470-475 .
• García-García G, aller e, JaiJo t, aparisi mJ, larrieu l, FauGère V, blanco-Kelly F, ayuso c, roux aF, millán Jm . Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa . Mol Vis . 2014 20: 1398-1410 .
• cristina martinez-FernanDez De la camara c, oliVares-Gonzalez l, HerVas D, salom D, millan Jm, roDriGo r . Inflixi- mab reduces Zaprinast-induced retinal degeneration in cultures of porcine retina . J Neuroinflammation . 2014 11:172 .
• sáncHez-alcuDia r, cortón m, áVila-FernánDez a, zurita o, tatu sD, pérez-carro r, FernanDez-san Jose p, lopez- martinez ma, Del castillo FJ, millan Jm, blanco-Kelly F, García-sanDoVal b, lopez-molina mi, riVeiro-alVarez r, ayuso c . Contribution of mutation load to the intrafamilial genetic heterogeneity in a large cohort of Spanish retinal dystrophies families . Invest Ophthalmol Vis Sci . 2014 55: 7562-7571 .
• aparisi mJ, aller e, Fuster-García c, García-García G, roDriGo r, Vazquez-manrique rp, blanco-Kelly F, ayuso c, roux aF, JaiJo t, millan Jm . Targeted next generation sequencing for molecular diagnosis of Usher syndrome . Orphanet J Rare Dis . 2014 9: 168 .
Highlights
Institution: Fundación para la Investigación del Hospital la Fe Contact: Hospital U La Fe/ Unidad de Genética · Avda . Campanar, 21 . 46009 Valencia Phone: (+34) 96 197 31 53 · E .mail: millan_jos@gva .es · Website: www .iislafe .es
• The development of a Platform for Genomics within the IIS-La Fe coordinated by the PI of the group. This is a NGS-based platform capable to sequence by panels of genes responsible for genetically heterogeneous di- seases and whole human exomes and is playing a key role in genetic diagnosis at both care level and research for the unit U755 and other groups of IIS .
• Projects like TREAT-CMT, ACCII and collaboration CIBERER-CNAG have allowed us i) to familiarize with and to interpret whole exome sequencing (WES) . A WES from a family with Usher (USH) syndrome has allowed us to identify a potential new disease-associated gene (manuscript in preparation); ii) to start the epigenetic analysis (directed and whole genome methylation) of patients with CMT with similar genotypes and discor- dant phenotypes; iii) to carry out functional studies on the effect of mutations in the splicing by minigenes technology and extracting mRNA from epithelial hair cells of USH patients .
• The consolidation of research in cell biology by studying the processes of apoptosis, oxidative stress and inflammation in the death of photoreceptors in both cell models (organotypic cultures of porcine retinas), animals (mice rd10) and patients (serum and aqueous humour of patients with retinitis pigmentosa (RP) .
• Initiation of genomic technology edition by CRISPR/Cas9 in cellular models. We have obtained a project to be performed in fibroblasts from patients with USH and RP .
• Generation of a model of C.elegans to identify modifier genes in Huntington’s disease (manuscript in prepa- ration) . We sequenced the complete genome of this model and we are analyzing the results .
• Translation to care system: the group maintains close relationship with several of patients’ associations, re- gular activity with Orphanet and CIBERER-Biobank and has participated in the development of a diagnostic guideline for aniridia in collaboration with another CIBERER group .
• Transferibility: A member of the unit has filed a patent about Menière’s disease that has benn extended to Europe and the United States but is not yet in operation .
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