Next Cross-Project Annual Meeting in Berlin, 1st – 5th May 2017
Published: July 16, 2016The next RD-Connect Annual Meeting will take place in Berlin from the 1st till the 3rd of May 2017 and will be held back-to-back with the joint NeurOmics and EURenOmics(…)
RD-Connect has 1000 followers on Twitter
Published: June 30, 2016Twitter helps us disseminate the news about RD-Connect’s achievements as well as other relevant information. We thank all of those who by retweeting help us reach broader audience.
Statement from the Newcastle coordination office on the outcome of the British EU referendum
Published: June 24, 2016The 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.
2016 BBMRI-LPC Whole Exome Sequencing Call
Published: June 23, 2016The 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.
RD-Connect three years on
Published: May 23, 2016The 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 label
Published: September 29, 2015The 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 sequencing
Published: August 10, 2015The 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(…)
RD-Connect Registry and Biobank Meeting (BYOD2)
Published: August 5, 2015From 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(…)
RD-Connect genomic analysis platform is opened up for beta-testing
Published: June 18, 2015The genomics side of the RD-Connect platform already includes over 360 exomes linked to detailed phenotypes stored in PhenoTips using the Human Phenotype Ontology
Launch of Rare Diseases International, the Global Voice for Rare Disease Patients
Published: June 10, 2015Over 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