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The outcome of the British EU referendum will not affect RD-Connect in the near future. We will continue our work to support rare disease research.
The 2016 BBMRI – LPC Whole Exome Sequencing (WES) Call is offering a unique opportunity to genetically diagnose rare disease patients with samples deposited in Biobanks from the EuroBioBank network.
The three FP7 flagship omics projects – RD-Connect, NeurOmics and EURenOmics – are just over three years old. At the end of 2015, each project submitted their third year progress(…)
RD-Connect’s International Charter of Principles for Sharing Bio-specimens and Data receives the IRDiRC Recommended labelPublished: September 29, 2015
The International Charter of principles for sharing bio-specimens and data, together with the template for general Material Transfer Agreement (MTA) and Data Transfer Agreement (DTA), constitutes an important enabling tool to(…)
Unraveling the genetic causes of hereditary ataxia and paraplegia using disease specific gene panels and next-generation sequencingPublished: August 10, 2015
The Institute of Medical Genetics and Applied Genomics in Tübingen has almost 8 years of experience in the field of next generation sequencing with a strong focus on diagnosing neurodegenerative(…)
From 30 June to 2 July, RD-Connect Registries work package leader Domenica Taruscio and her team at ISS hosted the second “bring your own data” (BYOD) meeting in Rome. This(…)
The genomics side of the RD-Connect platform already includes over 360 exomes linked to detailed phenotypes stored in PhenoTips using the Human Phenotype Ontology
Over 60 patient representatives from 30 countries gathered for the official launch and inaugural meeting of Rare Diseases International (RDI), held at the recent EURORDIS Membership Meeting in Madrid
A number of partners and associated partners from RD-Connect, NeurOmics and EURenOmics will be presenting posters, talks and taking part in panel discussions during this year’s ESHG European Human Genetics(…)