Page 28 - CIBERER-2015-eng

Transversal Programmes
Translation
Cooperation was underpinned with the twenty Linked Clinical Groups (GCV), spread over nine Spanish administrative regions and sixteen Na- tional Health Service (NHS) hospitals. In order to foster translation at the CIBERER a Call for Translational Research Projects was launched, in which Linked Clinical Groups and CIBERER units took part. Ten expressions of interest were sub- mitted and two projects were financed.
Mention should be given to getting under way the new Joint Action on Rare Diseases (RD Ac- tion) co-funded by the European Union Health Programme, in which all the EU member states are involved, and which CIBERER is a member of. This Joint Action is intended to ensure continuity for Orphanet and EUCERD Joint Action.
Lastly, support continues to be given to different registries of patients for clinical research, such as: State RD Registry, Fanconi Anaemia Database,
CIBERER backed the preparation of clinical prac- tice guides through different measures such as the Grupo Español de Trabajo sobre Cáncer en Sín- dromes Genéticos Polimalformativos (GT-CSGP), coordinated by Dr Martínez-González-U753. Apart from presenting its new web site (http://www.csg- pgrupo.org/) it published a new guide on the Tu- berous Sclerosis Complex (TSC). Another exam- ple was the CIBERER’s cooperation in the good clinical practice guide into Imprinting Disorders, which include chapters on different pathologies in this group of RD: These guides were published by Doctors Pérez de Nanclares and Lapunzina-U753.
CIBERER has gone on with its work in consultan- cy and promotion for the designation of orphan drugs stemming from its research groups. For ex- ample, in 2015 work was done on a new applica- tion for designation of EMA, for adrenoleukodys- trophy with Doctors Pujol-U759 and Knecht-U721.
Apart from this CIBERER continues to take part in the “National Health Service Strategy for Rare Diseases”, whose scientific coordinator is Dr Pa- lau. In 2015 the Ministry of Health, Social Services and Equality officially presented the eight Health Service Good Practices in RD, four of which be- longed to CIBERER groups.
E-IMD European registry and network for Intoxi- cation type Metabolic Diseases, E-HOD European network and registry for homocystinurias and methylation defects, NMD-ES Spanish Registry for Neuromuscular Diseases, aHUS/C3G Registry, Glycogenosis type V Registry, amongst others.
Transfer
Four patents were applied for in 2015, three of these European:
• Kit and method for diagnosis and prognosis of scoliosis developed by the U733 in coop- eration with CIBER spin-off Epidisease S.R.L. (EP15382319).
• A number of spirane compounds derived from oxindol-pyrazole [3,4-b] pyridinone and its ther- apeutic uses, developed by Dr Sanz’s group - U742 (P201531786).
• Use of nucleosides in the treatment of mito- chondrial diseases developed by Dr Martí’s group - U701 (EP15170825).
• Use of induced pluripotent cells (iPSCs) derived from PBMCs developed by the team under Dr Segovia - U710 (EP15382545 5).
28 I Annual report 2015 I CIBERER