RD-Connect three years on

23 May 2016

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 reports to the European Commission presenting significant achievements and progress towards an integrated platform for data sharing. Here we report highlights from RD-Connect.

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RD-Connect’s international charter of principles for sharing bio-specimens and data receives the International Rare Diseases Research Consortium (IRDiRC) Recommended label

29 September 2015

The International Charter of principles for sharin …

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Unraveling the genetic causes of hereditary ataxia and paraplegia using disease specific gene panels and next-generation sequencing

10 August 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 diseases . For the identification of disease-causing mutations within the NeurOmics project, our aim is to examine 100 patients per disease group using a targeted gene panel approach based on Illumina NGS technology.

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RD-Connect Registry and Biobank Meeting (BYOD2)

5 August 2015

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 meeting welcomed registry owners, biobank owners and data linkage experts with the main aim of the meeting to move closer towards the goal of linking data from these varied sources.

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RD-Connect genomic analysis platform is opened up for beta-testing

18 June 2015

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

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Launch of Rare Diseases International, the Global Voice for Rare Disease Patients

10 June 2015

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

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RD-Connect, NeurOmics and EURenOmics at the ESHG European Human Genetics Conference 2015

29 May 2015

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 Conference 2015, which is being held in Glasgow, Scotland (June 6-9, 2015). Further information about project specific activities is available here

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Data analysis and processing: creation of new bioinformatics tools in RD-Connect

5 May 2015

The rapidly increasing number of new omics projects is resulting in the generation of an unprecedented volume of data. These data are useless unless we can harness the power of sophisticated computer software – bioinformatics tools – to analyse, filter and interpret them. RD-Connect has a dedicated work-package, led by Christophe Béroud at Aix-Marseille University, which focuses on the development of bioinformatic tools. Partners in the collaborating projects NeurOmics and EURenOmics are also developing software tools and systems addressing aspects of relevance to their work.

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Updates from the 2nd RD-Connect and NeurOmics meeting (Palma de Mallorca, 2015)

13 March 2015

RD-Connect and NeurOmics held their annual meetings in Palma de Mallorca at the beginning of March 2015. Both meetings proved to be a great opportunity for project partners, associated partners and committee members to report on progress and achievements over the past year and to plan for future work.

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Attending the RD-Connect annual meeting: the patient perspective

12 March 2015

Last week, Oliver Timmis from the AKU Society attended the RD-Connect conference in Palma de Majorca. Oliver is a member of the Patient Advisory Council (PAC), a working group run by EURORDIS to provide patient input into the RD-Connect project. This week he writes about the topics covered at the conference, and the work being done by the project.

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