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Most relevant scientific articles
• García-primo p, HellenDoorn a, cHarman t, roeyers H, Dereu m, roGe b, baDuel s, muratori F, narzisi a, Van Daalen e, moilanen i, De la paz mp, canal-beDia r. Screening for autism spectrum disorders: state of the art in Europe . Eur Child Adolesc Psychiatry . 2014 Nov;23(11):1005-21 . doi: 10 .1007/s00787-014-0555-6 . Epub 2014 Jun 10 .
• lara b, martínez mt, blanco i, HernánDez-moro c, Velasco ea, Ferrarotti i, roDríGuez-Frias F, perez l, Vazquez i, alonso J, posaDa m, martínez-DelGaDo b. Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid . Respir Res . 2014 Oct 7;15:125 . doi: 10 .1186/s12931-014-0125-y .
• mora m, anGelini c, biGnami F, boDin am, crimi m, Di Donato JH, Felice a, JaeGer c, KarcaGi V, lecam y, lynn s, meznaric m, moGGio m, monaco l, politano l, De la paz mp, et al . The EuroBioBank Network: 10 years of hands- on experience of collaborative, transnational biobanking for rare diseases . Eur J Hum Genet . 2014 Dec 24 . doi: 10 .1038/ejhg .2014 .272 .
• tHompson r, JoHnston l, taruscio D, monaco l, bérouD c, Gut iG, Hansson mG, ‘t Hoen pb, patrinos Gp, DaWKins H, en- sini m, zatlouKal K, Koubi D, Heslop e, et al . RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research . J Gen Intern Med . 2014 Aug;29 Suppl 3:S780-7 . doi: 10 .1007/s11606-014-2908-8 .
• lópez-bastiDa J, linertoVá r, oliVa-moreno J, posaDa-De-la-paz m, serrano-aGuilar p . Social economic costs and health-related quality of life in patients with systemic sclerosis in Spain . Arthritis Care Res (Hoboken) . 2014 Mar;66(3):473-80 . doi: 10 .1002/acr .22167 .
Highlights
Institution: Instituto de Salud Carlos III Contact: Inst . de Investigación de Enfermedades Raras · Instituto de Salud Carlos III . IIER, pabellón 11 . Monforte de Lemos, 5 . 28029 Madrid · Tel .: (+34) 91 822 20 44 / 680 457 649 · E .mail: mposada@isciii .es 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
U-758 researchers have participated in 12 projects in 2014 (9 ongoing + 3 new) . It is important to point out the role of coordinator of the EU project “Autism Spectrum Disorders in the European Union” from DG-SANCO, and the participation in RD-Connect and RARE-BestPractices, both from FP7 . The head of the unit is also coordinator of the RD registries network SpainRDR, funding by IRDiRC consortium .
In 2014 Manuel Posada was appointed member of the group of experts in RD of the European Commission, and named President-Elect of the International Conference on RD and Orphan Drugs (ICORD) . U-758 international projection on RD field is completed with the NIH collaboration (ORD-NCATS) and the international group of undiagnosed cases .
U-758 develops and maintains two national platforms which support RD research: the National RD Biobank and the National RD Registry . The intraCIBERER collaboration is related to epidemiology and the National RD Registy . IIER has recently increases the possibilities of collaboration with basic research groups, thanks to its new human genetics department . Unfortunately, our request for inclusion those researchers in unit 758 CIBERER has been rejected in 2014, despite having been approved by the CIBER and the director of ISCIII .
In these circumstances, we have maintained the activities outlined in the previous years and developed new ones: SpainMDB database of mutations; new collaborative projects; inclusion in the ISCIII platform of biobanks, being coordinators of RD biobanks work package; application and success of a CIBERER “beca lanzadera”; and ongoing collaboration with CIBERER groups participating in the National RD Registry .
Finally, U-758 also collaborates with other CIBER such as CIBERESP and CIBERES .
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