Page 43 - CIBERER-2015-eng

Most relevant scientific articles
Research Groups
Jiang q, arnold s, heanue t, KilamBi KP, doan B, Ka- Poor a, et al. Functional loss of semaphorin 3C and/ or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liabili- ty. American journal of human genetics. 2015 Apr 2;96(4):581-96. PubMed PMID: 25839327. Pubmed Central PMCID: 4385176.
luZon-toro B, Bleda m, naVarro e, garcía-alonso l, ruiZ-Ferrer m, medina i, et al. Identification of epistat- ic interactions through genome-wide association studies in sporadic medullary and juvenile papil- lary thyroid carcinomas. BMC medical genomics. 2015;8:83. PubMed PMID: 26690675. Pubmed Cen- tral PMCID: 4685628.
luZon-toro B, esPino-Paisan l, FernándeZ rm, mar- tin-sáncheZ m, antinolo g, Borrego s. Next-gener- ation-based targeted sequencing as an efficient
Highlights
The group has received funding from external agen- cies in national projects (ISCIII: PI13/01560 and the Intrasalud project PI11/02923), from the Auton- omous Government of Andalusia (Consejería de Salud, PI-0105–2011 and Consejería de Economía, Innovación, Ciencia y Empleo, projects of excellence, CTS-7447 and CTS-1664), and a project of the Foun- dation Ramon Areces (CIVP16A1856). Within the co- operation agreement in the “Multidisciplinary action on rare diseases and personalized medicine” granted by CDTI-FEDER Innterconecta (EXP000528 87/ITC- 20111037), the group has developed a personalized medicine tool, using Inherited Retinal Dystrophies as a model. This tool integrates a full bioinformatics analysis with the automatic generation of a diagnostic report that links to the digital clinical history. It is also worth mentioning, a study showing that the common allele of the USH2A gene, p.C759F, is not pathogenic in homozygosis. These results indicate the need of re-evaluating all families genetically diagnosed with this mutation.
In the context of cooperative activity, the group has published six articles, two of them as a result of in-
tool for the study of the genetic background in Hirschsprung patients. BMC medical genetics. 2015;16:89. PubMed PMID: 26437850. Pubmed Central PMCID: 4595130.
luZon-toro B, gui h, ruiZ-Ferrer m, sZe-man tang c, FernándeZ rm, sham Pc, et al. Exome sequenc- ing reveals a high genetic heterogeneity on fa- milial Hirschsprung disease. Scientific reports. 2015;5:16473. PubMed PMID: 26559152. Pubmed Central PMCID: 4642299.
PoZo mg, BraVo-gil n, mendeZ-Vidal c, montero-de-esPi- nosa i, millan Jm, doPaZo J, et al. Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F. American journal of medical genetics Part A. 2015 Jul;167(7):1597-600. PubMed PMID: 25823529.
ternational collaboration, one within the International Consortium of Hirschsprung disease. The remaining four are the result of different collaborations with CI- BERER units (U706, U715 and U735).
In addition, we have been first to perform whole ex- ome sequencing in families with Hirschsprung dis- ease (HSCR). This study showed a remarkable degree of genetic heterogeneity. This helps to understand the problematic behind genetic counselling in HSCR. In addition, we have designed and validated a panel of genes associated with HSCR, as an efficient tool for a preliminary genetic screening in patients.
As for the thyroid cancer research line, two signifi- cant epistatic gene interactions in medullary thyroid cancer and three in juvenile papillary thyroid cancer (formed by a ncRNA and a gene), both tumors with a poor molecular characterization.
Finally, preimplantation genetic diagnosis has been applied in families with hemophilia and in affected couples of X-fragile Syndrome, representing a repro- ductive option for affected families and an achieve- ment for the public healthcare system in these pathol- ogies.
Institution: Fund. Pública Andaluza para la Gestión de la Investigación en Salud de Sevilla Contact: Hospital Virgen del Rocío · Avda. Manuel Siurot, s/n. 41013 sevilla · Tel.: 955 012 776 E.mail: [email protected]
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