We are pleased to announce the formation of a panel of experts who will consider the biobanks against a set of criteria to ensure the minimum quality assurance is met.
The last week of September in the UK is dedicated to rising awareness of Spinal Muscular Atrophy (SMA), an inherited neuromuscular condition.
The RD-Connect Guidelines for informed consent were acknowledged by IRDiRC as fundamentally important for the international rare diseases research.
In September 2016, the number of newsletter subscribers reached 1000! We would like to thank our readers for following our updates and being with us all that time.
Contribute to raising awareness and supporting Duchenne patients and families by donating a Duchenne Balloon today.
Identifying the cellular mechanism can be a breakthrough in the therapy for SMA. Employing genetic modifiers might revolutionise the treatment and give hope for better quality of life for the(…)
The 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(…)
Twitter 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.
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 International Rare Diseases Research Consortium (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