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During the World Orphan Drug Congress Europe, our workshop shined an important spotlight on the challenges and gaps affecting Europeans living with rare diseases. Supported by a dynamic panel of experts with diverse backgrounds in industry, R&D, artificial intelligence, HTA and health systems, the session focused on the patient experience across the rare disease journey. Building on these insights, we then explored multi-stakeholder solutions to help reduce the burden of rare diseases and advance health equity. Thank you to all who joined us for this impactful event! #WODC #WorldOrphanDrugCongress #RareDiseases #ChiesiGlobalRareDiseases

📢 New publication! The IRDiRC Primary Care Task Force has released an insightful paper titled "Global health for rare diseases through primary care" in The Lancet Global Health. Discover how primary care plays a vital role in facilitating early intervention and in avoiding extended diagnostic odyssey. Read the full paper here: https://lnkd.in/e_6_Rczr

Undiagnosed rare diseases represent a unique, critical, but often neglected, aspect of the rare disease community. For those living with an undiagnosed condition, the absence of a diagnosis often means years of uncertainty, limited access to appropriate care, and a lack of understanding from the medical community. These individuals are an integral part of our community, and it's essential that their needs are recognised and addressed! We’re proud to be a part of UDNI (Undiagnosed Diseases Network International). Starting today, EURORDIS Research & Policy Senior Manager, Gulcin Gumus, will be in attendance at the 13th Conference of the Undiagnosed Diseases Network International. Her presentation will highlight the importance of involving patients and their families in the journey toward finding answers and improving care. By focusing on those still seeking a diagnosis, we can drive meaningful progress in research, healthcare, and support systems, ensuring that no one is left behind. Learn more about the conference 👉 https://lnkd.in/ewXYfasa #RareDiseases #UndiagnosedDiseases #PatientEngagement

Despite recent advances in medicine, rare diseases continue to represent a huge unmet medical need and a significant public health challenge. Of the over 7,000 estimated rare diseases globally, only 5 per cent have approved medicines to help address them. The need for innovative treatments is therefore considerable. At Sobi, we are committed to reducing the gap for the 95% of rare diseases without a treatment. For us, meaningful engagement and cooperation with the rare disease community are essential. Learn more about our commitment to patients and our focus on rare diseases. https://lnkd.in/eH5c45m #Sobi #RareDiseases #RareStrength #Awareness

Are you passionate about advancing the needs of patients living with rare diseases? Join the Rare Disease Action Forum (RDAF) — a unique, multi-stakeholder organization committed to enhancing access to diagnosis, treatment, and care for patients with rare diseases in Switzerland. The RDAF is more than just an organization: it’s a neutral platform that brings together diverse voices from industry, healthcare, patient organizations, and research institutions. Our multi-stakeholder structure allows us to: 🔸Foster Dialogue: By engaging key stakeholders, we bring attention to the specific needs of rare disease patients. 🔸Shape Policy: We actively assess and adapt Swiss policies to better serve rare disease communities. 🔸Promote Equity: Working with policymakers, we aim to establish fair and timely standards to ensure that patients with rare diseases receive the care they deserve. Join the RDAF to be part of a multi-stakeholder organization that is transforming the landscape for rare disease patients in Switzerland. Together, we can make a lasting impact! 

The Rare Disease Action Forum brings together voices from actors in the field of rare diseases representing the industry, healthcare professionals, patient and research organizations to improve the lives of patients with rare diseases in Switzerland. Our objectives include: 👉 Raising awareness about rare diseases in Switzerland and foster dialogue about patients’ needs 👉 Assessing and adapting the Swiss environment to the needs of patients with rare diseases 👉 Adapting the standards to enable equal and fair treatment for patients with rare diseases Join our multi-stakeholder association or discover more RDAF objectives: https://bit.ly/3nKB4B1 #rarediseases #Switzerland

#Raredisease remains a global health concern, especially for under-served communities in low- and middle-income countries. The Undiagnosed Diseases Network International (UDNI) was established in 2015 to improve rare disease diagnosis and translation of research into clinical practice. In 2021, the UDNI launched the Diagnostic Working Group (#UDNI DWG) to accelerate diagnoses, support Undiagnosed Diseases Programs in resource-limited areas, and advance global medical knowledge through research and collaboration. This collaborative effort aims to enhance diagnostic capabilities and outcomes for individuals with rare diseases worldwide. Full Breakdown: https://lnkd.in/gvRYV5jy

We collaborate with patients, advocates and researchers to get more treatments for all people more quickly, including for #RareDiseases. With many research programs and activities that impact the rare diseases community, we’ve established ourselves as a leader in rare diseases research at the National Institutes of Health. Explore how we are addressing the significant and often unmet needs of those affected by rare diseases: https://go.nih.gov/njCpKfm

“As rare disease specialists, we are often met with incredulity about our ambitious plans to expedite change in rare disease”, explains Toby Wilson Waterworth, Co-founder and CEO of Ambrose.    “Regulators around the world have recognized that special incentives are crucial to bring much needed rare disease treatments to market, but many professionals are still unaware of all the available support mechanisms.  That’s why we commissioned this whitepaper to help spread the information and lead the way for a new generation of companies taking full advantage of the regulatory and financial support available.”       Download our white paper to explore regulatory stimuli for rare disease treatments and gain access to insights by industry experts.     https://lnkd.in/eBCGcNwk      #RareDisease #DrugDevelopment #HealthcareInnovation #AmbroseHealthcare #Founders

Treatments for rare diseases continue to challenge #healthtechnologyassessment in the UK. Building an economic model for an indication where there is no NICE - National Institute for Health and Care Excellence precedence remains a key issue as the design of clinical trials and the heterogeneity of trial endpoints often differs between treatments. Come along to Poster Session 5 on Wednesday morning at #ISPOREurope and ask Health Economist at Tolley, Luke Stainer, how he has overcome the challenge of identifying information for an economic evaluation in the rare disease, hereditary angioedema (HAE). #ISPOR #posterdiscussion #raredisease #HAE #economicmodelling #hta