Page 73 - MEMOCiberer014-ENG

Most relevant scientific articles
• “EGFR ligands and DNA repair genes: genomic predictors of complete response after capecitabine-based chemoradiotherapy in locally advanced rectal cancer .” sebio a, salazar J, páez D, berenGuer-llerGo a, Del río e, tobeña m, martín-ricHarD m, sulliVan i, tarGarona e, balart J, baiGet m, barnaDas a. Pharmacogenomics J . 2015 Feb;15(1):77-83 . doi: 10 .1038/tpj .2014 .33 . PMID: 25026457 .
• “Intergenic polymorphisms in the amphiregulin gene region as biomarkers in metastatic colorectal cancer pa- tients treated with anti-EGFR plus irinotecan .” sebio a, páez D, salazar J, berenGuer-llerGo a, paré-brunet l, lasa a, Del río e, tobeña m, martín-ricHarD m, baiGet m, barnaDas a. Pharmacogenomics J . 2014 Jun;14(3):256-62 . doi: 10 .1038/tpj .2013 . PMID: 23959273 .
• “Pharmacogenetics of the DNA repair pathways in advanced non-small cell lung cancer patients treated with platinum-based chemotherapy .” sulliVan i, salazar J, maJem m, pallarés c, Del río e, páez D, baiGet m, barnaDas a. Cancer Lett . 2014 Oct 28;353(2):160-6 . doi: 10 .1016/j .canlet .2014 .07 .023 . PMID: 25069034 .
• “Abnormalities in early markers of muscle involvement support a delay in myogenesis in spinal muscular atro- phy .” martínez-HernánDez r, bernal s, alias l, tizzano eF. J Neuropathol Exp Neurol . 2014 Jun;73(6):559-67 . doi: 10 .1097/NEN . PMID: 24806300 .
• “Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene .” alías l, barceló mJ, bernal s, martínez-HernánDez r, also-rallo e, Vázquez c, santana a, millán Jm, baiGet m, tizzano eF . Clin Genet . 2014 May;85(5):470-5 . doi: 10 .1111/cge .12222 . PMID: 23799925
Highlights
Institution: Instituto de Investigación del Hospital de la Santa Cruz y San Pablo Contact: Instituto de Investigación del Hospital de La Santa Cruz y San Pablo . S Antoni Ma Claret, 167 . 08025 Barcelona · Phone: (+34) 93 291 90 50 ext 7369
The U705 has vast experience in research and in clinical diagnosis of rare diseases, particularly in neuromuscular and hematological diseases, Pharmacogenetics and Oncogenetics .Due to the results of their research activity in 2014, the Unit has published a large number of articles in prestigious scientific journals . The capacity of attracting national and international funding is considerable both from competitive agencies (FIS/ISCIII, MICINN, MINCYT, Fundación Mutua Madrileña and SMA Europe), and also donations from private companies .
Furthermore, the Unit has worked directly with CIBERER units U702 and U715 (Program of Genetic Medicine) on the study of discordant families with neuromuscular diseases using next generation sequencing . The Unit also collaborates with other CIBERER units (U702, U755, U704, U753) working on the project “Creación de una base de datos nacional de mutaciones en línea germinal” (http://www .humanvariomeproject .org/) .
On the topic of translational research, the U705 is conducting two new clinical trials in SMA, in addition to the trials that started in previous years in the field of Pharmacogenetics . The Unit also contributes to international organisations such as the DMD Registry (TREAT-NMD) and the Registry of SMA patients, and collaborates with scientific societies and patient associations (ASEM and SEN) .The Unit has organized conferences and meetings, in order to raise awareness of rare diseases (“II Jornada de la Sociedad Española de Farmacogenética y Farmacogenómica”, Jornada “Defining targets for therapeutics in SMA” y “XI Jornada de Actualización en Genética Humana AEGH”) .On a final note, the Unit continues training researchers, two of which have subsequently completed their PhD thesis, and another who has been awarded the Juan Rodés contract . The Unit coordinates the postgraduate course in Clinical Pharmacogenetics and Pharmacogenomics (IL3-UB) .
www .ciberer .es 73