Thematic workgroup on Down Syndrome research priorities: Research infrastructures and biocollectionsBrain Council2021-12-07T09:21:22+00:00
The TRISOMY21 EBRA cluster held its second activity at the Centre for Genomic Regulation (CRG) in Barcelona on November 29th on Down syndrome research priorities: research infrastructures and biocollections, hosted by Prof. Mara Dierssen. Sixteen participants attended on-site and 34 online, with clinicians, researchers, representatives of 8 EU infrastructures and 3 USA initiatives, 4 patient associations and national resources.
EU local cohorts and registries of individuals with Down syndrome and biobanks were presented, highlighting the unique resources available (more than 6,000 individuals with Down syndrome in registries and 12,000 biosamples) and the need to organize, harmonize and link biosamples to a minimal set of clinical data. A roadmap has been proposed and a white paper should be published in the next months.
In the picture from front to back: Mara Dierssen, Marzia Perluigi, Eugenio Barone, Rafa de la Torre, Maria Martinez de Lagran, Anne-Sophie Rebillat, Diego Real de Asua, Isabel Barroeta, Andre Strydom, Marie Vilaire, Sophie Durand, Juan Fortea, Marie-Claude Potier, Angelo Carfi and Radislav Sedlacek
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