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Most relevant scientific articles
• Dopazo J., Amadoz A., Bleda M., Garcia-Alonso L., Aleman A., Garcia-Garcia F. et al. 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. Molecular Biology and Evolution. 2016;33(5):1205-1218.
• Enguix-Riego M.V., Torroglosa A., Fernandez R.M., Moya-Jimenez M.J., De Agustin J.C., Antinolo G. et al. Identification of different mechanisms leading to PAX6 down-regulation as potential events contributing to the onset of Hirschsprung disease. Scientific Reports. 2016;6.
• Bravo-Gil N., Mendez-Vidal C., Romero-Perez L., Gonzalez-Del Pozo M., Rodriguez-De La Rua E., Dopazo J. et al. Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. Scientific Reports. 2016;6.
• Tang CS, Gui H, Kapoor A, Kim JH, Luzón-Toro B, Pelet A et al. Trans-ethnic meta-analysis of genome- wide association studies for Hirschsprung disease.Human molecular genetics. 2016.
• Mancikova V, Montero-Conde C, Perales-Paton J, Fernandez A, Santacana M, Jodkowska K et al. Multilayer OMIC Data in Medullary Thyroid Carcinoma Identifies the STAT3 Pathway as a Potential Therapeutic Target in RET M918T Tumors.Clinical cancer research: an official journal of the American Association for Cancer Research. 2016.
Hightlights
The group has received funding from external agencies in national projects (ISCIII: PI13/01560 and the Intrasalud project PI11/02923), and autonomic projects (Junta de Andalucía: PI-0105–2011, PI-0445-2013 and projects of excellence, CTS-7447 and CTS-1664).
Several results of these projects during 2016 are worth mentioning:
• Implementation of a NGS panel of 68 retinal dystrophies genes in the Spanish population. These results have contributed to develop a personalized medicine tool comprising bioinformatics and the automatic generation of diagnostic report that links with the electronic health record.
• Generation of a catalogue of genetic variability in the Spanish population through exome sequencing of 267 healthy, control individuals. This study constitutes a valuable tool for the identification of genes associated with rare diseases.
• A study of the mechanisms involved in the reduced expression of PAX6, previously observed by our group in a cohort of Hirschsprung (HSCR) patients, has led to the identification of a highly repetitive region in its promoter that could alter the binding of EP300 and, consequently, the signaling pathways involved in the etiology of HSCR.
• GWAS studies of 507 cases HSCR and 1191 controls, led to the identification of three common susceptibility variants in RET, SEMA3 and NRG1 loci in European and Asian populations. Two variants of low frequency were detected, including SEMA3 rs80227144 (Europe-specific), and RET rs9282834 (Asia- specific), that in association with the enhancer of the intron 1 of RET, significantly increase the risk to develop HSCR.
• Analysis of the DNA methylation profile of more than 27,000 CpG islands in 48 cases of medullary thyroid cancer, a rare disease of quite unknown etiology, led us to conclude that STAT3 can be a therapeutic target for the treatment of tumors with RET M918T.
In the context of cooperative activity, the group has published five articles, two of them within the collaboration with the International Consortium of Hirschsprung disease, two other with the CIBERER Unit U715 and finally, one with a CIBERDEM group.
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