Page 149 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
castaño a, cutanda F, esteBan m, Pärt P, naVarro c, gómeZ s, et al. Fish consumption patterns and hair mer- cury levels in children and their mothers in 17 EU coun- tries. Environ Res. 2015;141:58-68.
PaZ s, torrent J, PoVeda Jl, PereZ J, moreno Jl, martin a, gonZáleZ l, cruZ J, comellas m, aBaitua i, urcelaY J. Experts Consensus on The Future of Rare Diseases Care and Orphan Drugs Access In Spain: A Delphi Study. Value Health. 2015;18(7):A679.
garcía-PéreZ J, lóPeZ-aBente g, gómeZ-Barroso d, morales-Piga a, romaguera eP, tamaYo i, Fernán-
Highlights
In 2015, U758 group participated in 9 projects (3 funded by the European Commission and 6 by na- tional agencies) and lead three of them. Projects to highlight:
• “AutismSpectrumDisordersintheEuropeanUn- ion” (DG-SANTÉ) lead by the head of U758.
• “SpainRDR” (ISCIII, IRDiRC) lead by the head of U758. The creation of a legal framework for RD registries at national and Autonomous Commu- nity level has been one of this project’s major achievements.
National Platforms supporting RD research devel- oped and sustained by U758:
• National Rare Diseases Biobank, full partner of the ISCIII Biobank Platform. RD working group is coordinate by both our biobank and Val d’Hebron Hospital biobank.
• National Rare Diseases Registry. Spanish Royal Decree where the official creation of the National RD Registry was published in the official gazette at the end of 2015. This law gathers the last 3 years’ experience of the SpainRDR project.
deZ-naVarro P, ramis r. Childhood leukemia and residen- tial proximity to industrial and urban sites. Environ Res. 2015;140:542-53.
Bladen cl, salgado d, monges s, FoncuBerta me, KeKou K, Kosma K et al. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystro- phy mutations. Hum Mutat. 2015 Apr;36(4):395-402.
ramis r, gómeZ-Barroso d, tamaYo i, garcía-PéreZ J, morales a, Pardo romaguera e, lóPeZ-aBente g. Spa- tial analysis of childhood cancer: a case/control study. PLoS One. 2015;10(5):e0127273.
New programs:
• Germinallinemutationsdatabase“SpainMDB”.
• Undiagnosed RD cases “SpainUDP” in collabora- tion with the International Undiagnosed Diseases Program launched by the NIH.
Manuel Posada is independent expert of the Com- mission Expert Group on RD, and collaborating part- ner of the new Joint Action namely RD-ACTION. He is a member of the Steering Committee of the “Glob- al Rare Diseases Registries” (NIH) and the Adviso- ry Board from the ERARE3 consortium. He is also member of the IRDiRC Task Force “Patient Centred Outcome Measurements” launched in 2015. He is the ICORD President Elect and President of the Sci- entific Committee. Finally he is responsible of the epidemiological module of the RD Master organized by José Antonio Alcazar (U729).
IntraCIBERER collaboration is mainly related to the National RD Registry and the Biobank Platform. International projection of U758 group is showing through their projects, participation in internation- al actions, high level committees and RD decision making.
Institution: Instituto de Salud Carlos III · Contact: Instituto de Investigación en Enfermedades Raras Monforte de Lemos, 5. 28029 Madrid · Tel.: 91 822 20 44 /680 457 649 · E.mail: [email protected] Website: http://www.isciii.es/ISCIII/es/contenidos/fd-el-instituto/fd-organizacion/fd-estructura-directiva/ fd-subdireccion-general-servicios-aplicados-formacion-investigacion/fd-centros-unidades/instituto- investigacion-enfermedades-raras.shtml
CIBERER I Annual report 2015 I 149