Page 96 - MemoriaCIBER-2017ENG

• Consuegra I, Rodríguez-Aierbe C, Santiuste I, Bosch A, Martínez-Marín R, Fortuto M A, Díaz T, Martí S, and Muñoz-Fernández MA Isolation methods of peripheral blood mononuclear cells in Spanish biobanks: an overview Biopreservation and Biobanking 2017 Aug;15(4):305-309
• M Seco-Cervera et al Circulating miR-323-3p is a biomarker for cardiomyopathy and an indicator of phenotypic variability in Friedreich’s ataxia patients Scienti c Reports – Nature 2017 Jul 12;7(1):5237
• R Urreizti et al A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes – Nature Scienti c Re- ports vol 7, Art num : 44138 (2017)
• C Fuster-García et al USH2A Gene Editing Using the CRISPR System Molecular Therapy - Nucleic Acids Vol 8, p529–541, 15 Sept 2017
Objective 3: Generating an added value for CIBERER Groups
Provision of Services
Portfolio of services for CIBERER researchers: safekeeping of samples, establishment of cell cultures and generation of lymphoblastic lines, techniques for quality control of samples (analyses of the integ- rity of DNA and genetic print)
Development of new services: culture of myoblasts, immortalisation of broblasts (at the request of several CIBERER groups) and generation of IPS cells
In 2017 there were 42 services for processing and safekeeping samples, establishment of cell cultures, cell immortalisation and advice for CIBERER Groups
Objective 4: Fostering and backing new lines of action in rare diseases Collaboration work in projects:
• FP7 HEALTH 2012-INNOVATION: RD-Connect: An integrated platform connecting registries, biobanks and clinical bioinformatics for RD
• New diagnostic approaches for inherited syndromes with bone marrow failure for treatment with innovative therapies (SHIMO) PI: Julián Sevilla IPS: J Bueren, J Surallés, P Lapunzina, S Webb, I Badell and J Sevilla
BIER Bioinformatics for Rare Diseases
Coordinator: Joaquin Dopazo Blázquez
In 2017 the BIER has coordinated one ACCI project (ACCI-2016-25, the continuation of 06-ACCI2015) in which it has developed an advanced version of a system for storage and management of genomic data (exomes, panels or whole genomes) The software was developed in cooperation with Genomics Eng- land Ltd and it has the fastest and most scalable processing engine for genomic data in the world Eight centres took part in the project and hospitals from ve autonomous communities: La Paz, Fundación Jiménez Díaz, Ramón y Cajal, Centro de Biología Molecular (Madrid), Virgen del Rocío (Seville), Hospital del Mar (Barcelona), HU La Fe (Valencia), Universidad de Santiago de Compostela (Galicia) At the present time it has several hundreds of clinical exomes, whole exomes and even whole genomes
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