News

The Economist Intelligence Unit report on rare neurological diseases challenges for policy makers, patients and healthcare professionals

EJP RD member and Coordinator of the European Reference Network for Rare Neurological Diseases (ERN-RND) Holm Graessner , alongside with Mary Kearney from the Irish College of General Practitioners and Primary Care Physician and  Antonio Federico, Professor of Neurology and Director Unit Clinical Neurology and Neurometabolic Diseases in the University of Siena were involved in the production of the Economist Intelligence Unit’s report entitled “Navigating rare neurological diseases: meeting the…

Remembering Prof. Dr. Gert Jan van Ommen

It is with great sadness that we’ve learned Prof. Dr. Gert Jan van Ommen passed away. EJP RD honors his creative scientific mind as well as his huge contribution and leadership of the Human Genetics department at Leiden University Medical Centre. We send our deepest condolences to his family, friends and collaborators in this difficult…

The European Commission jointly evaluates the Orphan and Paediatric Regulations

The European Pharmaceutical Strategy was recently released and it includes strengths and weaknesses of the legal instruments and the European Commission is preparing the review of the legislation on medicines for rare diseases and children: the Orphan and Paediatric Regulations. The EFFECTIVENESS of both regulation on the R&D of new medicines for these patients and their timely availability and coverage of unmet needs, the EFFICIENCY in improving their…

Rare Diseases Cures Accelerator – Data and Analytics Platform (RDCA-DAP) 2020 Virtual Workshop

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 2020

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…

EOSC Governance Symposium 2020

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…

EMA’s Workshop on Support for Orphan Medicines Development

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…

WikiPathways Training Course and User Guide

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…

Big Data Steering Group for 20-21

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…

EURORDIS Black Pearl Awards 2021

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,…