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Most relevant scientific articles
• Garcia-alonso l, Jiménez-almazán J, carbonell-caballero J, Vela-boza a, santoyo-lopez J, antinolo G, et al . The role of the interactome in the maintenance of deleterious variability in human populations . Mo- lecular systems biology . 2014;10:752 . PubMed PMID: 25261458 . Pubmed Central PMCID: 4299661 .
• Garcia-Diaz l, De aGustin Jc, ontanilla a, marenco ml, paVon a, losaDa a, et al . EXIT procedure in twin pregnancy: a series of three cases from a single center . BMC pregnancy and childbirth . 2014;14:252 . PubMed PMID: 25078677 . Pubmed Central PMCID: 4124143 .
• Gonzalez-Del pozo m, menDez-ViDal c, braVo-Gil n, Vela-boza a, Dopazo J, borreGo s, et al . Exome sequen- cing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies . PloS one . 2014;9(12):e116176 . PubMed PMID: 25544989 . Pubmed Central PMCID: 4278866 .
• lecerF l, KaVo a, ruiz-Ferrer m, baral V, Watanabe y, cHaoui a, et al . An impairment of long dis- tance SOX10 regulatory elements underlies isolated Hirschsprung disease . Human mutation . 2014 Mar;35(3):303-7 . PubMed PMID: 24357527 .
• torroGlosa a, enGuix-rieGo mV, FernanDez rm, roman-roDríGuez FJ, moya-Jiménez mJ, De aGustin Jc, et al . Involvement of DNMT3B in the pathogenesis of Hirschsprung disease and its possible role as a regula- tor of neurogenesis in the human enteric nervous system . Genetics in medicine : official journal of the American College of Medical Genetics . 2014 Sep;16(9):703-10 . PubMed PMID: 24577265 .
Highlights
Institution: Fundación Pública Andaluza para la Gestión de la Investigación en Salud de Sevilla Contact: Hospital Virgen del Rocío · Avda . Manuel Siurot, s/n . 41013 SEVILLA Phone: (+34) 95 501 27 76
The main research lines have been funded by external agencies (public and private) through 9 projects (including one Intrasalud project), and one ACCI project in collaboration with other CIBERER units . It is worth mentioning the collaboration of Guillermo Antiñolo and Salud Borrego in “Multidisciplinary Action on rare diseases and Personalized Medicine” (CDTI-FEDER-Innterconecta) . His participation as Scientific Director of The Medical Genome Project (2010-2013) has contributed to the generation of the Exome Server . As for the translational research, it is remarkable the use of targeted NGS as a new tool for the genetic diagnosis of inherited retinal dystrophies . It should be noted the transfer of these outcomes to Sistemas Genómicos, S .L ., which commercializes this panel with diagnostic purposes . Regarding the study of Hirschsprung disease (HSCR), a customized NGS panel has been validated . This has improved our knowledge about the genetic background of our HSCR patients . In addition, another 2 customized NGS panels, one for hereditary colon cancer and another for familial adenomatous polyposis haven been implemented .
The group has also developed new highly complex applications in fetal therapy, including an ex-utero intrapartum therapy (EXIT) procedure for a twin pregnancy with severe congenital diaphragmatic hernia .
A new experimental model has been generated, based on the isolation of enteric precursors from mice for studies with DNMT3B, a new gene linked to the ethiopathogenesis of HSCR through epigenetic processes . Additionally, a ChIP-Seq protocol has been optimized for the study of HSCR using neurospheres isolated from mice guts .
Finally, a clinical guide for FMR1-associated diseases (X-Fragile syndrome, primary ovarian insufficiency and tremor/ataxia syndrome), in collaboration with other CIBERER units has been published . In addition, the group participates in the registry of genetic variants on germinal line in Spanish patients . Also, three new medical consultations for pheochromocytomas, paragangliomas and congenital cardiopathies have been implemented in 2014 .
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