The new IRDiRC’s report “State of Play of Research in the Field of Rare Diseases: 2015-2018” is out!

The International Rare Diseases Research Consortium (IRDiRC) releases the current state of play of research in the field of rare diseases . The IRDiRC’s report “State of Play of Research in the Field of Rare Diseases: 2015-2018” is a compilation of information published in scientific journals and press releases over the period of September 2015 Read more about The new IRDiRC’s report “State of Play of Research in the Field of Rare Diseases: 2015-2018” is out![…]

New IRDIRC Recognized Resource: “The Model Organism Aggregated Resources for Rare Variant ExpLoration (MARRVEL)”

MARRVEL (Model organism Aggregated Resources for Rare Variant ExpLoration), a new IRDiRC recognized resource, is available online! It is a search engine that collects data from a number of human genomics and model organism genetics databases and displays it in a rapid user-friendly format. <<MARRVEL is a publicly available website that integrates information from six Read more about New IRDIRC Recognized Resource: “The Model Organism Aggregated Resources for Rare Variant ExpLoration (MARRVEL)”[…]

Global public meeting on draft ICH guideline on clinical trials

The global guidance for the conduct of clinical trials is currently undergoing a major revision. As part of the worldwide consultation process, the International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use (ICH) is organising a public meeting to review its draft E8 (R1) Guideline ‘General Considerations for Clinical Trials’. EMA is encouraging its stakeholders to register Read more about Global public meeting on draft ICH guideline on clinical trials[…]

New Elixir paper published in Nature: “Leveraging European infrastructures to access 1 million human genomes by 2022”

ELIXIR team has recently published in Nature Reviews Genetics. The article explores how European research infrastructures can be leveraged to facilitate transnational access to at least one million human genomes. This is building on the recently declared ‘European ‘1+ Million Genomes’ initiative’ signed by 21 European countries, which is targeted for completion by 2022. In Read more about New Elixir paper published in Nature: “Leveraging European infrastructures to access 1 million human genomes by 2022”[…]

ERN webinar: “Diagnostic Imaging in NMD: the basics”

EURO-NMD host educational webinars that occur on a monthly basis. The webinars are presented with the aim of increasing each viewer’s knowledge of different specialist areas related to the neuromuscular field. Their next webinar will be taking place on Thursday 24th October from 13:00 to 14:00 GMT / 14:00-15:00 CET on the subject of “Diagnostic Imaging Read more about ERN webinar: “Diagnostic Imaging in NMD: the basics”[…]

2019 call for membership to the existing European Reference Networks (ERNs) will open soon

The European Commission will launch in the coming weeks the first call for new members to join existing 24 ERNs, following the adoption of the Commission Implementing Decision (EU) 2019/1269  of 26 July 2019 amending Decision 2014/287/EU. The concrete date of the launch of the call will be announced soon. General information on ERNs and call for Read more about 2019 call for membership to the existing European Reference Networks (ERNs) will open soon[…]