iGenCO

Duración

01/01/2021 - 31/12/2023

Coordinador

Juan R. González (ISGlobal) / Sergi Beltran (CNAG-CRG)

Financiadores

La Marató TV3

The iGenCo project aims to discover novel causative genes and enable the diagnosis of rare disease patients. The efforts will build on the Undiagnosed Rare Disease Program of Catalonia (URD-Cat) project and platform, in collaboration with many hospital research groups in Catalonia.

Juan R. González, head of the Bioinformatics Research Group in Epidemiology, and Sergi Beltran, Head of Bioinformatics Unit and the Data Analysis Team at the CNAG-CRG, work on developing innovative solutions to facilitate in-depth genomic and cross-omics analysis of molecularly undiagnosed rare disease patients.

Total Funding

300,000 €

Related Publications

• Gemma Bullich; Leslie Matalonga; Montserrat Pujadas; Anastasios Papakonstantinou; Davide Piscia; Raúl Tonda; Rafael Artuch; Pia Gallano; Glòria Garrabou; Juan R. González; Daniel Grinberg; Míriam Guitart; Steven Laurie; Conxi Lázaro; Cristina Luengo; Ramon Martí; Montserrat Milà; David Ovelleiro; Genís Parra; Aurora Pujol; Eduardo Tizzano; Alfons Macaya; Francesc Palau; Antònia Ribes; Luis A. Pérez-Jurado; Sergi Beltran; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases. The Journal of Molecular Diagnostics Volume 24, Issue 5, May 2022, Pages 529-542. https://doi.org/10.1016/j.jmoldx.2022.02.003

Related Multimedia

• El big data ajuda a posar fi a "l'odissea del diagnòstic" de les malalties minoritàries (324.cat, 12/05/2022)