Page 49 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
Juan-mateu J , gonZáleZ-quereda l , rodrígueZ mJ, Baena m, Verdura e, nascimento a, et al. DMD Muta- tions in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PlosOne. 2015;10(8): e0135189.
Paré-Brunet l, seBio a, salaZar J, Berenguer-llergo a, río e, Barnadas a et al. Genetic variations in the VEGF pathway as prognostic factors in metastatic colorectal cancer patients treated with oxaliplatin-based chemother-
BoZa-morán mg, martíneZ-hernándeZ r, Bernal s, Wanisch K, also-rallo e, le heron a, et al. Decay in survival motor neuron and plastin 3 levels during differ- entiation of iPSC-derived human motor neurons. Sci Rep. 2015;5:11696.
seBio a, salaZar J, PáeZ d, Berenguer-llergo a, del río e, toBeña m, et al. EGFR ligands and DNA repair genes: genomic predictors of complete response after capecit- abine-based chemoradiotherapy in locally advanced rec-
apy.Pharmacogenomics J. 2015;15(5):397-404.
martín-Blanco a, Ferrer m, soler J, arranZ mJ, Vega d, calVo n, et al. Therole of hypothalamus-pituitary-adrenal genes and childhood trauma in border line personality dis- order. Eur Arch Psychiatry Clin Neurosci. 2015.
Highlights
The U705 has maintained its high level of produc- tion and quality in research and clinical diagnosis of rare diseases during 2015.
In the evaluated period, the Unit has published a large number of papers in international scientific journals with good impact factors and has partic- ipated in the writing of the guidelines “Manual de Práctica Clínica en Senología”. Due to this scientific production, the Unit has attracted new funding from the competitive agencies FIS/ISCIII, ACCI and Mutua Madrileña Foundation, and also through donations from private companies (Ecogen and Gebro Phar- ma). Many of the projects funded will be conducted in collaboration with other CIBERER Units and linked clinical groups (U732, U703, GCV01, GCV02, GCV03 and GCV04).
Clinical trials in SMA and Pharmacogenetics, inter- national registries –the DMD Registry (TREAT-NMD) and the National Registry of SMA patients-, and collaborations with scientific societies and patient
tal cancer. Pharmacogenomics J. 2015;15(1):77-83.
associations –the ASEM and the SEN- which were started in previous years are still active. This is in addition to our continuing participation in clinical committees on genodermatoses and pediatrics in Sant Pau Hospital, and interhospital meetings on neuromuscular diseases in which the U703 and U732 Units also collaborate.
Regarding training, the Unit has organized the “Jor- nada CIBERER: actualización en Hemofilia”, the “VII Curso Teórico-práctico: Aplicación de las nuevas tec- nologías al diagnóstico genotípico” and has initiated a seminar cycle in which researchers of CIBERER Units (U703, U732, U745, U726 and U747) partici- pate. The mobility grant awarded to one of our CIB- ER employees permitted collaboration with U715 in analyzing and interpreting the NGS results generat- ed by the CIBERER platform (U702) in the Program of Genetic Medicine. In 2015, a Rio Hortega-funded researcher led by the IP Unit defended her PhD thesis obtaining the highest qualification.
Institution: Instituto de Investigación del Hospital de la Santa Creu i Sant Pau Contact: S Antoni Ma Claret 167. 08025 Barcelona · Tel.: 93 291 90 50 ext7369
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