DBGen awarded an EASI-Genomics grant for innovative long-read sequencing of inherited retinal dystrophies

DBGen Ocular Genomics, a spin-off company of the University of Barcelona founded by professors Roser Gonzàlez-Duarte and Gemma Marfany Nadal and specialized in the genetic diagnosis of inherited eye diseases, has been selected in the third call of EASI-Genomics to carry out an innovative project to apply third-generation sequencing (long-read sequencing) for the resolution of complex genetic diagnoses in patients with retinal dystrophies. This call is an initiative financed by 10 million euros by the European Union under the Horizon 2020 Research and Innovation Framework Program, with the aim of supporting innovative genomics projects from the initial phases of design and sequencing, up to bioinformatic analysis.

The project awarded to DBGen, in which doctors Rebeca Valero and Miquel Tuson also collaborate, will study several families with inherited retinal dystrophies (IRDs), a group of vision disorders that progressively lead to blindness. The funding of this project will promote DBGen collaboration with SciLifeLab Uppsala (Sweden), pionner center in Europe for genomic sequencing and bioinformatics applied to genetic diagnosis. The innovative genomic methodology of long-read sequencing will be applied to analyze difficult genetic diagnoses, which until now cannot be solved by conventional short-read sequencing (NGS) approaches.

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