EURORDIS-Rare Diseases Europe

10 Minutes With Rhiannon Walls: The European Reference Networks In our final episode of 2024, host Rhiannon W. sits down with Victoria Hedley to discuss the European Reference Networks (ERNs). What are they? Where did they come from? What can they do for you? And most importantly, what do they mean for the future of the rare disease community? 🧐 Register for the event to receive reminders when we go live so that you don’t miss out on what promises to be an informative conversation!

How could AI transform rare disease care? 🎙️ #EURORDISRareOnAir In the latest episode of Rare on Air, host Julien Poulain sits down with Julián Isla, a rare disease advocate, AI expert, and father of a son with Dravet syndrome. Julián shares his personal journey, starting with the challenges of getting a diagnosis for his son, and how that experience led him to co-found Foundation 29 to revolutionise rare disease care through artificial intelligence. This inspiring conversation covers the life-changing impact of receiving a diagnosis and explores how AI tools like DxGPT are expediting diagnosis and empowering clinicians! Julián also discusses the cultural and regulatory hurdles in adopting AI in healthcare and shares his bold vision for its transformative role in the future of medical decision-making. 🎧 Listen now to hear Julián’s story and insights: https://lnkd.in/euT9HiQz #RareOnAir #EURORDIS #RareDiseases #DravetSyndrome #AIForGood #PatientAdvocacy #HealthcareInnovation

This year’s EURORDIS Policy Maker Award honours Stella Kyriakides, for her unwavering commitment to improving the lives of people living with rare diseases across Europe. During her tenure as European Commissioner for Health and Food Safety (2019-2024), Kyriakides championed key advancements that will leave a lasting impact: ✅ European Pharmaceutical Strategy: Driving reforms to rare disease and paediatric medicine regulations, boosting innovation and access to treatments. ✅ Strengthening ERNs: Expanding European Reference Networks and integrating them into national systems through initiatives like Joint Action JARDIN. ✅ Newborn Screening: Highlighting its role in reducing disparities and promoting early diagnosis and care for children with rare diseases. ✅ Collaborative Health Initiatives: Supporting patient-led health policies through comprehensive EU programmes and sustainable Operating Grants for civil society. Her leadership, marked by vision, collaboration, and action, has transformed policies during a pivotal period, including the COVID-19 pandemic, prioritising patients, equity, and innovation. We are grateful for her tireless dedication and trust that her legacy of advocacy will continue to inspire change for the rare disease community. ➡️ Read more: https://lnkd.in/evzHGAve #EURORDISAwards2025 #HealthPolicy #RareDiseases #Advocacy

🗣️ “But with time, understanding, support, and self-acceptance, it is possible to find peace of mind and purpose despite the difficulties.” Kate Tyler’s journey is one of self-compassion, demonstrating the importance and power of open and honest communication. Having been born with several rare congenital anomalies, she lived in fear and pain for many years. It wasn’t until her sixties that she began to shed the cloak of embarrassment and shame, along with the heavy weight of her anxiety and constant worry, to live a balanced life with the people most important to her. 📖 Read this inspiring story: https://lnkd.in/ea3vY3Fj #MentalHealth #MentalWellbeing #PatientCommunity #CongenitalAbnormality

On 12 January 2025, the EU Health Technology Assessment (HTA) Regulation will begin to apply, marking a transformative moment in how health technologies and medicines are assessed across Europe. This new regulatory framework is designed to enhance collaboration, efficiency, and inclusivity, with promising implications for our community! By streamlining processes, the Regulation could help accelerate access to essential treatments across EU Member States. But what exactly will change, and how will it impact patients, healthcare professionals, industry, and policymakers? Our latest article explores the details of this important transition.👇 #HTA #HealthTechnology #RareDiseases #Europe

🏔️" On you go, climbing higher and higher, every day. You know you will never reach the summit, but you still keep pressing on regardless."🏔️ In the second episode of our bi-weekly bonus series #RareDiseaseDay Stories, we hear David's story about his experience living with stiff-person syndrome, a rare condition that has shaped every aspect of his life. From his veritable diagnostic odyssey, to losing his voice for months, to battling isolation and depression, David’s story is one of perseverance, determination, and unwavering hope. With the support of his wife, David continues climbing his mountain, inspiring others to continue no matter how challenging the journey. 🎧 Listen now: https://lnkd.in/euT9HiQz 📅 Don't forget – @Rare Disease Day is on 28 February 2025! There are just 73 days to plan how you will be getting involved! #RareDiseases #PatientStories #Resilience #Inspiration #StiffPersonSydrome #SPS

This year, we are thrilled to recognise Jane Velkovski, a passionate rare disease advocate from North Macedonia, as the recipient of the Young Advocate Award! 🎉 Living with spinal muscular atrophy (SMA), Jane has made waves both nationally and internationally, championing the rights of people with disabilities and rare diseases. From his impactful participation in UNICEF disability campaigns and the UEFA equality campaign, to his unforgettable TED talk and speeches at the United Nations General Assembly, Jane is breaking barriers and igniting conversations on the world stage. His dedication also shines through his work with SMA Europe, Stop SMA, and his commitment to creating a more accessible world. As a panel speaker at our Membership Meeting in Stockholm, he amplified the voices of young people with rare diseases and emphasised the importance of empowering the next generation. Congratulations, Jane! Your incredible work continues to inspire us all to push for a more equitable, accessible, and understanding world. 🌍 👉 Read more: https://lnkd.in/evzHGAve #EURORDISAwards2025 #YoungAdvocate #RareDiseaseAwareness

🌍 How can we make healthcare systems better equipped to care for people living with rare diseases? In our final #ERNsOnAir episode of 2024, Inez Hernando (ERN and Healthcare Director at EURORDIS) speaks with César Hernández García (Director General at the Spanish Ministry of Health) and Dorica Dan (President of the Romanian Rare Disease National Alliance and patient lead in ERN ITHACA). Their discussion centres on the potential impact of the JARDIN Joint Action project, aiming to incorporate European Reference Networks (ERNs) into Europe's national healthcare systems. Listen below to hear César explain the opportunities he foresees JARDIN providing and how they could help improve care for people living with a rare disease! Listen now! 🎧 https://lnkd.in/euT9HiQz #ERNs #EuropeanReferenceNetworks #EURORDISRareOnAir #CrossBorder

Time to make your voice heard and help us select the next social media star of the rare disease community! 🗳️ #EURORDISAwards2025 Our Social Media Award celebrates advocates and influencers whose innovative and impactful social content amplifies the voices of the rare disease community. From our specially selected shortlist of four worthy finalists, there can only be one awardee, as decided by public vote. Our winner will be crowned live during the #EURORDISAwards2025 ceremony! Yamina Hsaini, Marta Cucurella Perdomo, Wojciech Sawicki, and Clara Ziegler are all making an extraordinary impact by fostering strong, supportive communities and using them to shine a light on the unique joys and challenges experienced by those living with rare diseases! Learn more about their impact and cast your vote!  👉 https://lnkd.in/eKsj9hMH #community #RareDiseases #Europe #RaisingAwareness

📣 Calling all EURORDIS members & rare disease patient organisations! ERDERA is inviting research teams to collaborate on cutting-edge projects focused on: "Pre-clinical therapy studies for rare diseases using small molecules and biologicals – development and validation." We encourage you to explore this opportunity and consider joining forces with researchers and clinicians to answer this call for proposals. Register for the upcoming webinar to learn about the application process, clarify eligibility criteria, and gain valuable tips to make your proposal stand out. 💡 Drop us a message in the comments section or contact Roseline Favresse, our Research Policy and Initiatives Director, at roseline.favresse@eurordis.org. We’re here to help! 🤝