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Plataforma Red Nacional de Biobancos of the ISCIII, specifically: Programme-3: Exploration
of new types of samples, specifically of the “3.2-MicroRNA” and Programme-4: Plan for External Communication and Dissemination for patients’ associations, organisation of explanatory events and collaborative measures. As regards agreements with industry, two cooperation agreements have been signed with Epidisease: the first in the framework of a project entitled “TEST ScoliPro®” in which the CBK will process and store the samples for this study and the second for determining the telomerase activity of the lines of fibroblasts immortalised at the CBK.
The CBK has taken part in different media for disseminating its work such as: the European Night for researchers arranged at the Centro de Investigación Príncipe Felipe, the Congreso Nacional de Biobancos and it has taken part in a dissemination article on Biobanks in Genética Médica News.
In 2018 the CBK applied for a total number of 7 projects: i) Projects in the Call for Cooperative and Complementary Intramural Actions of the CIBERER. 3 of the 4 projects applied for have been granted; ii) Politécnico-FISABIO Project; iii) XIX Concurso Nacional de la Fundación Ramón Areces Project and iv) National Plan Project. This
BIER
Coordinator:
Joaquin Dopazo Blázquez
In 2018 the BiER continued with the work lines previously started, which include versioning
and use in production of the MMP software (personalised medicine module), based on IVA partly developed with the ACCI- 2016-25. This software has been used for the two projects which have consumed most resources of the platform: the ENoD (cohort project), in which 188 exomes were analysed, and to a lesser extent (even while being of greater size), the NaGen, in which 254 whole genomes were analysed. As a result of the cooperation with the SAS, roughly 1554 samples were analysed at the MMP-SAS over the reported period, mainly clinical exomes designed at the SAS, but also exomes and genomes.
The BiER has gone on working on the server for genetic variation of the Spanish population
year 5 of the 3 projects allowed were granted with the participation of the CBK with a financing of 13,500€.
Publications:
• Circulating miRNAs as diagnostic biomarkers for adolescent idiopathic scoliosis. JL. García- Giménez, PA. Rubio-Belmar, L. Peiró-Chova, D. Hervás, D. González, JS. Ibañez-Cabellos, P. Bas, S. Mena-Mollá, EM. García-López, FV. Pallardó and T. Bas. Scientific Reports-Nature 2018 Feb 8;8(1):2646.
• Small RNA-seq analysis of circulating miRNAs to identify phenotypic variability in Friedreich’s ataxia patients. M. Seco- Cervera, D. González-Rodríguez, JS. Ibáñez- Cabellos, L. Peiró-Chova, FV. Pallardó and JL. García-Giménez. Scientific Data-Nature 2018 Mar 6;5:180021.
• ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic Metabolism. E. Rubio-Solsona, S. Martí, JJ. Vílchez,F. Palau and J. Hoenicka. Plos One. 2018 Jun 6; 13(6):e0198880.
(CSVS: http://www.ciberer.es/bier/csvs), which has been opened to other projects outside the CIBERER in order to increase its volume, as few sequences come from the CIBERER (we do not know whether this is through low production
or through low accession to contributing to the CSVS). At the present time this contains data of allelic frequencies of variants currently obtained mainly from exomes and some genomes of 2000 unrelated Spanish individuals. The CSVS is one of the Beacons of GA4GH (https://beacon-network. org/) and is one of the resources of ELIXIR-ES.
The BiER has furthermore been working for
some time on different aspects of systems medicine and in particular on the development
of mechanistic models to be applied in the study of disease mechanisms in RDs. We have recently been granted an ACCI project (PI María Peña) “Mathematical models of disease mechanisms for reformulation of medications in rare diseases” for its application to an eminently translational problem in RD: drug repositioning.
In this systems medicine field the BiER has given two courses on tools for handling mechanistic
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CIBERER | ANNUAL REPORT 2018