The Executive Summary of the 10th European Conference on Rare Diseases and Orphan Products held on 14 – 15 May 2020, is now available online. The interactive Executive Summary is a document compiling the key takeaways from the conference, highlights from each theme, key facts and figures on the event itself, full list of committee members,…
RD-Connect GPAP will present the new module GPAP-Phenostore, used to collect standardised phenotypic information from individuals whose omics data will be analysed. An introductory video of this new module can be accessed here. The online Webinar will take place next Thursday 26th November from 15h (CET) to 16h (CET). If you would like to attend,…
To showcase the importance of data sharing in rare disease drug development and to highlight the first year milestones, the Critical Path Institute (C-Path) and the National Organization for Rare Disorders (NORD®) hosted the Rare Disease Cures Accelerator-Data and Analytics Platform (RDCA-DAP) 2020 Virtual Workshop on Monday, October 19th. RDCA-DAP is a platform that serves…
Duchenne Patient Academy is hosting on November 30– December 6 an online training dedicated to patient advocacy. The training is open to Duchenne Muscular Dystrophy and Becker muscular Dystrophy patient advocates, with selected days open to all Motor Neurone Disease patient advocates who might be interested. It is of particular interest to: individuals affected by…
This year’s largest event organised by the European Open Science Cloud Executive (EOSC) & Governing Boards with the support of the EOSC Secretariat project will go virtual on 19-22 October 2020 (mornings only). Registration is free of charge and open here until 13th October 2020. The event will analyse the progress of EOSC after two…
EJP RD will be presenting at The European Medicines Agency’s Workshop on Support for Orphan Medicines Development which will take place via broadcast on 30 November 2020. The goal of this event is to emphasise on an early medicine development and regulatory interactions. Existing tools such as orphan designation, protocol assistance and PRIME scheme will be…
Pathways explain how the cells in our bodies work. Like a wiring diagram, pathways show the flow of interactions and reactions among molecules that perform all the functions of life. There are basic metabolic pathways, e.g. the metabolism of sugars, signaling pathways, like the development of the heart, and there are also pathways for diseases…
The Big Data Steering Group set up by the European Medicines Agency (EMA) and the Heads of Medicines Agencies (HMA) has published its first workplan which sets actions to be delivered in 2020-21. The workplan aims to progress evolution to data-driven regulation through smart working, leveraging international collaboration with stakeholders and the use of remote…
The awards strive to recognise and put the spotlight on the exceptional accomplishments in the field of rare diseases. This includes the ever-growing contributions of patient advocacy groups, volunteers, scientists, companies, media, and policy makers towards alleviating the impact of rare diseases on people’s lives. Awards categories & criteria The 13 award categories, listed below,…
Duchenne Muscular Dystrophy is a degenerative genetic condition which causes weakness and eventual loss of use in muscles of affected boys because of the absence of the dystrophin protein. September 7 is World Duchenne Awareness Day. On this day World Duchenne Organization raises awareness for Duchenne and Becker muscular dystrophy around the globe. Every year,…