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![…]
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)”[…]
Please join for the next ENDO-ERN webinar on “New therapeutic targets for the treatment of pancreatic neuroendocrine tumours” on Thursday October 10th at 16:00 – 17:00 CET (UK time 15:00 – 16:00). The webinar will be held by Jo Blair, Attila Patocs & Rajesh Thakker . For registration click here.
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[…]
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”[…]
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”[…]
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[…]
Newly adopted Marketing Authorisation Decisions (last six months) The Union Register lists all medicinal products for human and veterinary use as well as orphan medicinal products that have received a marketing authorisation by the @EU_Commission through the centralised procedure. Check out the full list here.
The Economic, social and cultural rights new report of the UN highlights the status quo and future needs of persons living with rare diseases. “Rare diseases often attract stigma and discrimination, and many persons living with a rare disease find themselves excluded from participation in employment and from integrating fully and productively into society”.
Nitisinone is probably the biggest source of hope for alkaptonuria (AKU) patients right now. Research efforts under the DevelopAKUre project are bringing its commercialisation within reach. DevelopAKUre (Clinical Development of Nitisinone for Alkaptonuria), the project investigating nitisinone supported by the AKU Society and coordinated by the Royal Liverpool and Broadgreen University, is close to completing its Read more about New AKU treatment comes closer to commercialisation[…]