EURORDIS-Rare Diseases Europe

On 28 February 2025, the world will unite for the 18th consecutive edition of #RareDiseaseDay! 🌎 This global movement amplifies the voices of 300 million people worldwide living with rare diseases. With events in over 100 countries and support from 70 national partners, Rare Disease Day brings together the patient community, researchers, policymakers, and allies to ensure that rare diseases remain a global priority. ✊   Every action counts. Whether by raising awareness, supporting research, or advocating for policy improvements, you can do more than you imagine! Need some inspiration? Find out more about all the ways you can get involved! ⏬ #RareDiseases #RaisingAwareness #recognition #engage

This time next week we will be preparing to welcome you to the #EURORDISAwards2025 ceremony both online and in Brussels! Register now to watch the events unfold and show your support for our rare disease community in the lead up to #RareDiseaseDay. The ceremony will be streamed live and available in: French, German, Spanish, Italian, Finnish, Dutch, Polish, Greek, Danish, Latvian, Bulgarian, and Macedonian. 📆 24 February 2025 👉 https://lnkd.in/e-PpychQ #RareDiseases #awards #community

How can we promote meaningful, and inclusive patient partnership within the European Reference Networks (ERNs)? This literature review, co-authored by Ines Hernando and Graham Slater, published in the Journal of Community Genetics, sheds light on the importance of framework implementation for proper, structured evaluation of patient partnership in rare disease networks. Read the full article ➡️ https://lnkd.in/e6mczf74 #RareDiseases #article #publish #LiteratureReview

😊"Your smile isn’t just about your teeth - it’s about the person behind it"😊 In this episode of our #RareDiseaseDay Stories podcast series, we share Sushmita’s Story - a journey of resilience and redefining beauty beyond appearances. Born with amelogenesis imperfecta (AI), a rare genetic condition affecting tooth enamel, Sushmita faced stares, ridicule, and painful dental procedures from a young age. Misunderstood and even accused of poor hygiene, she struggled to make others see beyond her condition. But with the support of her family, she turned her pain into purpose. Instead of letting AI define her, Sushmita chose to become an advocate, sharing her story, and working alongside dentists to improve care for others with AI. Now, she’s preparing to present her own case study at a medical seminar, proving that every story has the power to inspire change. 🎧 Listen now: https://lnkd.in/euT9HiQz 📅 Rare Disease Day is on 28 February 2025. Join us in raising awareness and supporting the rare disease community! #RareDiseaseDay #RareDiseases #AmelogenesisImperfecta #Advocacy #PatientStories #Resilience #SmileWithConfidence

📣 Calling all academics working in drug repurposing! While the potential of repurposing is huge, the pathway to deliver a repurposed medicine from concept to market remains a challenging one. The REMEDi4ALL Drug Repurposing Bootcamp is your chance to gain expert insights and practical skills in navigating the repurposing landscape from concept to market access! This interactive and immersive training will cover the repurposing pathway and product development mindset, repurposing collaborations, regulation and scientific advice, and advice on funding strategies. 📅 March 17-18, 2025 📍 Wellcome Genome Campus, Cambridge, UK ➡️ Register now: https://lnkd.in/ehtBVXza #RareDiseases #REMEDi4ALL #training #repurposing #academic #scientific

Have you voted yet? 🗣️ You have just 12 days left to cast your vote and help decide this year’s winner of the Black Pearl Social Media Award! If you would like to hear more from our finalists, you can head over to our Instagram to hear them tell their story in their own words! 🌟 https://lnkd.in/eKsj9hMH #EURORDISAwards2025 #community #celebration #awareness #advocacy

Last but by no means least, we are deeply honoured to present the 2025 EURORDIS Lifetime Achievement Award to Birthe Byskov Holm, whose extraordinary commitment over more than 40 years has transformed the lives of people living with rare diseases, especially within the osteogenesis imperfecta community. Birthe’s extensive contributions span both national and international arenas, with her unwavering dedication to advocacy, her leadership in key organisations, and her drive to improve lives embodying the very essence of this award. Her legacy is one of inspiration, progress, and hope for the future of the rare disease community. Congratulations, Birthe, on this well-deserved recognition, and thank you for a lifetime of tireless advocacy. 🌟 Read more: https://lnkd.in/evzHGAve #EURORDISAwards2025 #LifetimeAchievement #RareDiseaseAdvocacy

From inadequate recognition of disabilities to limited access to state-funded support, our latest #RareBarometer survey highlights the significant challenges in education, employment, and social inclusion that our facing our rare disease community. 🚧 Conducted between July and September 2024, the Rare Barometer survey gathered responses from 9,591 individuals across 43 countries, representing 1,643 rare diseases. The key findings were shared during a webinar earlier today and are now publicly available on our website. 🗣️ “The results clearly show that people with rare diseases live with diverse, complex, and often invisible disabilities, and face numerous barriers every day. With over half of respondents finding it difficult to access publicly funded support, it is evident that current systems are failing to meet their needs.” - Raquel Castro, Social Policy and Initiatives Director Find out more: https://lnkd.in/enmhW-dG #RareDiseases #Survey #disability #inclusion #education #employment

"Her determination is best described by her nickname: Sophia the Fierce." 🦁 In this episode of our #RareDiseaseDay Stories bonus podcast, we hear Sophia’s Story, told from the perspective of her parents, Rachel and Gary. For years, her family searched for answers. However, due to the unavailability of genetic testing, her ultra-rare RARB gene mutation was not diagnosed until she was seven. But with the support of specialists, treatments were identified that helped improve her cognition and speech. Now Sophia is in high school, continuing to defy expectations as she embraces life with fierce determination - albeit with an occasional pinch of sarcasm! By launching A Cure for Sophia and Friends, Rachel and Gary created a community-driven initiative supporting others with similar RARB mutations and advancing research for this ultra-rare condition. Listen now to Sophia’s Story and join us in raising awareness for all rare diseases as we count down to Rare Disease Day on 28 February 2025. 🎧 Listen now: https://lnkd.in/euT9HiQz 📅 Rare Disease Day is just around the corner! Let’s come together to support the rare disease community. #RareDiseaseDay #RareDiseases #RARBMutation #MCOPS12 #Advocacy

How do the regulatory framework and procedures shape the development of new medicines? 📜 Our course dives into the legal framework, guidelines, and key regulatory requirements that influence the outcome of the journey of new treatments. As patient advocates and researchers, having a solid grasp of regulatory affairs is essential for engaging effectively with health authorities and driving change. 📖 Learn at your own pace ✅ Complete the final quiz 🎓 Earn your certificate of completion Now more comprehensive and interactive than ever before! Empower yourself with knowledge - enroll today! 👉 https://lnkd.in/ekDpEeV7 #RegulatoryAffairs #PatientAdvocacy #RareDiseases