February 20, 2018 – Launch of The Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease

Shire, Microsoft and EURORDIS announced a strategic alliance to address the diagnostic challenge for patients living with a rare disease. The long road to diagnosis is one of the most important issues affecting the health, longevity and well-being for rare disease patients and their families. The purpose of the Global
Commission is to establish a roadmap for the rare disease field that focuses on solutions to core barriers
preventing timely diagnosis for all rare diseases – with an emphasis on those affecting children. The
Global Commission brings together representatives from multiple sectors to provide diverse perspectives
on rare disease diagnostics. Learn more here.

February 16, 2018 – EURORDIS calls on European Commission to secure UK Healthcare Providers’ post-Brexit involvement in European Reference Networks. 

Rare Disease Europe calls on the European Commission to secure the continuous and sustained involvement of UK healthcare providers as members of the newly established European Reference Networks (ERNs) in the forthcoming Brexit negotiations with the UK government. This will help to secure strong mutual benefit for both the European Union and United Kingdom. Read more here.

December 19, 2017 – FDA approves novel gene therapy to treat patients with a rare form of inherited vision loss

The U.S. Food and Drug Administration today approved Luxturna (voretigene neparvovec-rzyl), a new gene therapy, to treat children and adult patients with an inherited form of vision loss that may result in blindness. Luxturna is the first directly administered gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene. See more

News Archive






Round Table of Companies, Thursday 22nd Nov – Please join us for our inaugural Round Table of Companies. This meeting will introduce RDI’s vision for the future, and will focus on patients’ expectations on collaboration and inclusion, and will summarise the obstacles, advantages, and good practices for collaboration into the future. If you are an industry representative and interested to attend, please contact us at Space is limited.


ERN Symposium – Oct 23, 2018 – RDI hosted a symposium to update patient organisations on current developemnts with European Reference Networks. The meeting fetaured a presentation from EURORDIS patient advocate, Matt Bolz-Johnson, ERN & Healthcare Adviser. Matt has led the development and delivery of European Reference Networks (ERNs) from EURODIS’ perspective. Following Matt’s presentation there was a panel discussion on ERNs, featuring Matt Bolz Johnson, Prof Mark Little, co-founder and coordinator of ERN-RITA, and Dr Mary Kearney, member of EPAG at ERN-RND.

Rare Disease Symposium – May 3, 2018 – The RD Symposium, hosted at UCD’s O’Brien Centre in Belfield, Dublin, was designed to raise awareness among healthcare professionals, policymakers, and the general public about rare diseases. The symposium explored developments in rare disease research and how far industry has come over recent years with cures and advancements for rare diseases. 

Joint North-South Rare Disease Conference – Mar 5, 2018 – The 4th Joint North-South Rare Disease Conference, to celebrate Rare Disease Day and to share news, ideas and information on rare disease issues. The Conference took place in Queen’s University, Belfast. The Conference theme was ‘Nothing about us without us’ and aimed to showcase examples of research (academic, clinical, and social) where patients and families were engaged and involved; what difference it made; and what is happening now and into the future.

Rare Disease Day – Feb 28 2018 – The 11th international Rare Disease Day. On and around this day, hundreds of patient organisations throughout the world held activities to raise awareness of rare diseases. The main goal was to raise awareness for the public, those impacted by rare diseases, and decision makers about rare diseases and how they impact patient’s lives as well as their loved ones. Learn more about events held globally.