Page 95 - MemoriaCIBER-2017ENG

Platforms
To facilitate the research work done by the CIBER for Rare Diseases and the scienti c community 3 support platforms were arranged: CIBERER Biobank, BIER, and MAPER We will now stress their main achievements in this last yearly period Special mention should be given to the work done through Orphanet, a vital tool in the eld of RD which had its 20th anniversary in 2017 The Spanish team, co- ordinated by CIBERER since 2010, has continued with its work in translating and identifying healthcare and research resources available in this country, making a great e ort in quality control this year and updating the data of expert or benchmark centres, incorporating ERN in its database, as well as the translation of emergency guides and disability datasheets
CIBERER Biobank
Coordinator: Francesc Palau Martínez
Summary of the main activities and results linked with the objectives de ned in the Action Plan 2017:
Objective 1: Providing the Biobank with biological samples
The total number of samples in the biobank at the end of 2017 is 675 in over 70 di erent pathologies (http://www ciberer-biobank es)
Objective 2: Fostering a Plan for Strategic Alliances and Dissemination
Collaboration work
• Member of the Red Valenciana de Biobancos (RVB) since 2010
• Cooperation Agreement with the IBSP-FISABIO Biobank
• Framework agreement with the Banco Nacional de ADN since 2008
• Plataforma Red Nacional de Biobancos (PRNB) of the ISCIII since 2010, forming part of sever- al work groups
• Cooperation with the PRNB and the Universidad Católica de Valencia in the University Master Course in Biobanks
• Member of the Eurobiobank since March 2017
Measures for disseminating the work done by the Biobank
• 10th Annual Meeting of the CIBERER (poster); presentation of the biobank at FISABIO; Annu- al Meeting of RD-Connect/Eurobiobank; 8th Congress of the National Network of Biobanks (poster); and 3rd Congress for RD in the Valencian Community
Publications
• S Martí, M León, C Orellana, J Prieto, X Ponsoda, C López-García, JJ Vílchez, T Sevilla, J Torres Generation of a disease-speci c IPS cell line derived from a patient with Charcot-Ma- rie-Tooth type 2K lacking functional GDAP1 gene Stem Cell Research, Volume 18, January 2017, 99 1-4