Page 139 - CIBERER-2015-eng

• Molecularcharacterizationofthe22q11.2region by MLPA techniques and its correlation with mi- crosatellite genotyping and FISH.
• Pharmacogeneticsandpharmacogenomics.
• Autosomalrecessiveosteogenesisimperfecta.
• Genomic diagnostic tools. Oligo-based microar- rays, BCAs and SNPs.
• Genomic,epigeneticandtranscriptionalstudyof tumours in polymalformative genetic syndromes. Macrocephaly-Capillary Malformation.
• NextGenerationSequencingasanewdiagnostic tool in genetic disorders.
• DravetSyndrome.
Most relevant scientific articles
Research Groups
luPiáñeZ dg, KraFt K, heinrich V, KraWitZ P, Brancati F, KloPocKi e et al. Disruptions of topológical chromatin domains cause pathogenic rewiring of gene-enhancer in- terations. Cell. 2015;161(5):1012-25.
gordo-gilart r, andueZa s, hierro l, martíneZ-Fernán- deZ P, d´agostino d, Jara P, alVareZ l. Functional anal- ysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity. Gut. 2015;64(1):147-55.
caParrós-martín Ja, de luca a, cartault F, aglan m, temtamY s, otaiFY ga et al. Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by
Highlights
During 2015 we have contributed with 38 publica- tions, with an average impact factor of 4.1. Among them we can highlight articles in journals such as Cell, Gut, J Clin End Metabol, Hum Mol Genet, etc. As achieved technological milestones, we have devel- oped genomic technologies such as arrays and NGS platforms at the clinical setting, being a pioneer ini- tiative in Spanish hospitals. We have also supported the first section of bionformatics located in a pub- lic hospital in Madrid, with three bioinformaticians. During this period 14 competitive research projects were active, especially from public agencies (Minis- tries/FIS) and some European and American (2 of them managed by the CIBERER). We have initiated new interdisciplinary consultations and increased our genetic service portfolio. We increased our par- ticipation in cooperative activities. The contribution of the 2 hired CIBERER (one in aspects of clinical
disrupting the recruitment of the EvC complex and SMO into the cilium. Hum Mol Genet. 2015;24(14):4126-37.
hisado-oliVa a, garre-VáZqueZ ai, santaolalla-caBal- lero F, Belinchón a, Barreda-Bonis ac, Vasques ga et al. Heterozygous NPR2mutations cause disproportion- ate short stature, similar to Léri-Weill Dyschondrosteosis. J Clin Endocrinol Metab. 2015;100(8):E1133-42.
Verdin h, FernándeZ miñán a, Benito-sanZ s, Janssens s, calleWaert B, Waele Kd et al. Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape. Sci Rep. 2015;5:17667.
and translational research and the other in aspects of basic research and mechanisms and biology of rare diseases) is excellent. A large number of joint activities within the PdI such as organizing confer-ences, national and international workshops, the CIBERER-DNA-DAY, and organization of conferences and meetings with patients associations were per-formed. The position and contribution of the group within the CIBERER is excellent. Our principal value are multidisciplinary and hospital integration and gender balance (clinical basic, clinical, molecular re-search and the biological basis of disease, and in the last two years, especially bioinformatics, genomics and systems biology). The INGEMM consists of 19 sections and has a large number of patients and samples from patients with rare genetic diseases.
Institution: Servicio Madrileño de Salud
Contact: Hospital La Paz. Paseo de la Castellana, 261. 28046 Madrid · Tel.: 91 727 72 17
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