Page 53 - MemoriaER-Eng

www.ciberer.es

• Services Provided

The Biobank has fine-tuned a lymphocyte immortalization service that all CIBERER
investigators can benefit from and is fine tuning other techniques that can also be

offered as a service (myoblast culture, iPS cell generation,..).

Thirteen requests were received from CIBERER groups in 2013.

Objective 4: To promote and support new lines of action in rare
diseases

Participation in projects:

• In 2013, the Biobank continued collaborating in projects which began in previ-
ous years and started working in other new projects:

•
Open phase II study of ketoconazole as an inhibitor of the enzyme CYP17 in
locally advanced or disseminated granulosa cell tumors of the ovary. GreKo

Study. Applicant: Fundación Hospital Universitario de Alcorcón. Principal in-
vestigator: Jesús García-Donas Jiménez. Project funded by the General Direc- é

torate of Pharmaceuticals and Medical Devices, Ministry of Health and Social

Policy.

• FP7 HEALTH 2012-INNOVATION: RD-Connect: An integrated platform con-
necting registries, biobanks and clinical bioinformatics for RD. The biobank

participates as an Associated Partner.
í

• Translational Research, Experimental Medicine and Therapeutics on Charcot-

Marie-Tooth, TREAT-CMT. International Rare Diseases Research Consortium
(IRDIRC).
é

•
Participation, together with the CIBERER U730 (Dr. Nunes), in an international
project (European and North American groups) to study the Wolfram syn-

drome. In the framework of this study, samples of DNA, RNA and immortal-

ized cell lines will be collected (from about 30 patients. CIBERER Biobank will
handle processing, storing and safeguarding these samples.

•
Effect of epigenetic factors on the development of the juvenile idiopathic scoli-

osis. Jos Luis Garca Gimnez (U733). Grant Call 2012 of Mapfre Foundation.

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