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26/03/2018

The work of the Translational Bioinformatics group receives the award of the publisher of the Science journal for the best poster in the Human Genome Meeting

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26/03/2018

The editors of the prestigious Science, Nature Genetics, Nature Communications and Human Genomics journals have been responsible for awarding the four most prominent posters.

In the framework of the prestigious international congress "Human Genome Meeting" recently celebrated in Japan, the work of Natàlia Padilla, member of the http://en.vhir.org/portal1/grup-equip.asp?s=recerca&contentid=186936 Translational Bioinformatics research group of VHIR, has won the prize of the editor of the Science journal, Laura M. Zahn, to the best poster.The congress has brought together more than a hundred scientists from around the world to address various questions about the human genome, from the most theoretical field of basic research to the most applied field in the clinic, with diseases of genetic origin. In this year's edition, the editors of the prestigious Science, Nature Genetics, Nature Communications and Human Genomics journals have been responsible for awarding the four most prominent posters, among them, they have chosen Natàlia Padilla's and Dr. Xavier de la Cruz's, head of Translational Bioinformatics Research Group at VHIR and ICREA researcher.The work, entitled 'The co-localization of paralog genes in topologically associated domains, can explain why the effect of some deletory mutations is suppressed,' in English, is intended to characterize the existence of a powerful mechanism of genetic redundancy that would protect the organism from the incorrect functioning of the genes. This mechanism is based on the existence of the so-called paralog genes from the same evolutionary origin and with a similar biochemical function, which in this case, would be next in the genome. This proximity is the one that would allow them to have a similar gene expression and thus restore the function of the mutated gene.As explained by Natalia Padilla, "we were looking for a protective device of the body in front of pathogenic variants." "If we have two genes that are paralog, the function they perform is very similar, so that when one of them is mutated, the other can replace the activity of it, thus diminishing the consequences of the mutation," she clarifies.This discovery has been made possible thanks to the new experimental techniques that have been developed to characterize the three-dimensional structure of the genome. These techniques have allowed to see the relationships between genes from a new point of view, in which the roles of paralogic and the disposition of genes in the space are combined. "This award is an acknowledgment of the work we are doing and one of the most dangerous bets in my doctoral thesis," emphasizes Natàlia Padilla. So far, we had focused on the coding variants and now one of the new lines of the Translational Bioinformatics group is focused on the non-coding variants. "This award also supports the increasingly important role of bioinformatics in the massive biomedical data analysis," she concludes.

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