Maternal Alloimmunization Foundation的动态

?? Empowering Progress: Europe's Rare Disease Endeavor In the intricate realm of #rarediseases, #Europe stands united in its commitment to transformative change. Over recent years, the continent has pioneered strategies to support #patients, #caregivers, and pioneer new solutions for rare conditions. A pivotal success emerged in 2017 with the inception of European Reference Networks (#ERNs). These virtual networks seamlessly connect 24 ERNs focused on rare and complex diseases, uniting healthcare providers, professionals, patient organizations, and clinical leaders across the EU. ?? Strength in Unity With over 1600 Healthcare Providers (HCPs) and 400 hospitals integrated into ERNs, these networks have become epicenters of knowledge exchange. They empower member hospitals, researchers, and patient groups with a collective wealth of expertise. ?? Beyond Coordination: ERNs as Catalysts for Progress Far beyond coordination, ERNs actively engage in educational activities, developing clinical practice guidelines and decision support tools. They are dynamic hubs for #research and #innovation in rare and low-prevalence complex diseases. ?? Seeding Tomorrow's Solutions Noteworthy is ERNs' contribution to EU-registries. Enriched with high-quality data from patients with rare diseases, these registries serve as a wellspring for research, propelling the development of the next generation of #treatments. Curious to know more about the EU rare disease environment and ERNs? See below for more information ??

On Rare Disease Day, we are raising awareness for the millions of individuals living with rare conditions. The fight for equity is crucial. Let us unite in advocating for change and ensuring that every individual living with a rare disease has access to the necessary resources and support they need. #RareDiseaseDay #EquityForRareDiseases #RareDisease

How many of us truly understand the urgency that rare disease patients and their families face every day? As I reflect on my time at World Orphan Drug Congress in Barcelona this week, I’m filled with pride, questions, and a renewed sense of purpose. Presenting our first poster on improving care for DMD patients in the GCC felt like a milestone, yet I leave with deeper reflections on the challenges that lie ahead for the rare disease community: 1. The Balance of Diagnosis and Treatment: Early diagnosis can open doors, but for so many rare diseases, the window to act is narrow. How can we create systems that not only diagnose but also deliver effective treatments without delay? This question sits heavily with me, knowing how precious time is for families facing rare and especially ultra-rare diseases. 2. Access to Clinical Trials: Clinical trials are lifelines. Yet, while trials are accessible in Europe and beyond, patients in the Middle East often don’t have these options. This disparity isn’t just a gap; it’s a call to action to bring equal opportunities to all. 3. Newborn Screening Questions: Screening can mean early intervention, but what if we identify a disease for which no treatment exists? We need protocols that not only handle these cases sensitively but also provide families with a clear path forward. This goes beyond policy—it’s about compassion. 4. Real-World Evidence (RWE): In rare diseases, every piece of information matters. We need to amplify patient experiences, capturing their stories and data as a foundation for next steps and to inform policy and decision-makers. Our path forward should be guided by those living these realities each day. This experience has reinforced the kind of leadership we need in healthcare: leadership driven by purpose. We owe it to the rare disease community to make decisions that prioritize lives over profit and short-term wins. I don’t expect many will read this post, and even fewer may feel the urgency that families and patients with rare diseases face. Sadly, it often takes personal experience to feel the urgency for change. But what if we could act before it touches us personally? How can we build a more compassionate society—one that doesn’t wait to empathize, but chooses to act? #WODC #Duchenne #RareDisease #UltraRare #PatientAdvocacy

We're thrilled to launch our groundbreaking Set of Patient-Centered Outcome Measures for Adults living with Obesity, a complex, chronic, relapsing disease with a wide array of consequences, including increased risk of stroke, heart disease, and certain types of cancer. This new set prioritizes what truly matters to patients: their physical, social, and emotional well-being. This landmark achievement in value-based healthcare redefines patient care by focusing on outcomes that impact daily life. Developed with input from patients, top physicians, and measurement experts, it's a global game-changer. Recognized worldwide, these measures are implemented in 42 countries, addressing 60% of the global disease burden. A huge thank you to our amazing sponsors: Novo Nordisk, Eli Lilly and Company, and Boehringer Ingelheim. Find out more and download the Obesity Set here: https://bit.ly/4cK6dJd #HealthcareInnovation #PatientCare #ObesityAwareness #ICHOM #ValueBasedCare

On Rare Disease Day, we are raising awareness for the millions of individuals living with rare conditions. These illnesses affect fewer than 1 in 2,000 people, often with complex diagnoses and limited treatment options. Though individually rare, collectively, they impact an estimated 300 million people worldwide. There are promising trends in the battle against rare diseases that offer hope for patients: ?? Precision medicine: Customizing treatments to individual genetic profiles holds great promise for rare diseases, potentially providing more effective and personalized therapies. ?? Real-world evidence (RWE): Utilizing data from everyday clinical practice enhances our understanding of rare diseases and informs treatment decisions in the absence of large-scale clinical trials. ?? Patient advocacy: The increasing advocacy efforts of patients and their families are driving research, funding, and policy changes, pushing for greater equity and access to diagnosis, treatment, and support. The fight for equity is crucial. On this Rare Disease Day, let us unite in advocating for change and ensuring that every individual living with a rare disease has access to the necessary resources and support they need. Check out a previous Insight where we recommended strategies to optimize the launch of rare disease therapies. https://lnkd.in/ehp5ipJy #RareDiseaseDay #EquityForRareDiseases

Such an amazing World Symposium on PH #WSPH we had! It was a great opportunity to network and meet friends and colleagues from around the world. Wonderful high-level discussions and some new treatment #opportunities for our patients. My favorite #HotTopic: why do #trials fail in PH associated with chronic lung diseases? 1. Appropriate patient population/phenotype: ?Degree of parenchymal vs vascular derangement ? Pre-capillary PH vs post-capillary vs combined pre/post capillary PH ? Parenchymal diagnosis (ILD vs CPFE, specifically degree of emphysema) 2. Appropriate duration of trial 3. Choice of endpoint: PVR vs 6MWT vs a clinical combination endpoint 4. Choice of medication dose and route of administration We will be waiting for the upcoming publication of task forces recommendations!

As we draw close to Multiple Myeloma Awareness Month, it's crucial to acknowledge the devastating impact this disease has had and continues to have on patients and their families. From the initial diagnosis to navigating complex treatments – the life of a multiple myeloma patient has never been easy. At #MyCompany, we are dedicated to taking #TheNextStep in enhancing outcomes for multiple myeloma patients. Our commitment extends beyond raising awareness by actively taking steps, making strides and offering hope. ? Together, with healthcare practitioners we can continue to support patients, advance research and strive for a world free from the burdens of multiple myeloma. ? #MyNextStep #MultipleMyeloma #MultipleMyelomaAwarenessMonth?#EmpowerPatients #J&J ? Jayashri Kulkarni Dr Rachana A. Karen Annunciation?Aditya Karthic IDevanshi Vora Sachin Wasuja RAGHUNANDANA REDDY Hitesh V Khandelwal Debraj Ghosal ?

Unmet Needs in Rare Diseases: A Call for Action Continuing our Rare Disease Day (Feb 29th) series, ZoomRx delves into unmet needs identified by 100 MDs treating these conditions. Key findings:? ??Improved treatment efficacy is the top unmet need, highlighting the crucial need for effective treatments.? ??Investment in research for new therapeutic targets and modalities is strongly emphasized by MDs.? ??Clinical decision support tools and educational programs are seen as crucial resources for improved care. These findings underscore the need for continued research, collaboration, and targeted resources to address the unique challenges of rare diseases. Read more in detail: https://bit.ly/49S00tm Stay tuned for our next post on patient challenges! #RareDiseaseDay #UnmetNeeds #MedicalResearch #Healthcare?

March marks National Kidney Month, spotlighting the critical importance of early detection and proper treatment of kidney disease. It's a time to discuss not just the challenges but the transformative solutions shaping patient care. ? Kidney disease is not only common, with 1 in 10 Americans affected by chronic kidney disease (CKD), it's also a silent crisis. Patients can lose up to 60% of their kidney function without noticeable symptoms, making early detection a complex yet vital endeavor. Consider the numbers: Medicare allocates $153 billion annually (24% of its total budget) to combat kidney disease—a stark testament to its impact on our healthcare system and the lives of millions. This substantial expenditure underscores the need for preemptive strategies in disease management. ? Leveraging digital tools for monitoring patient biomarkers over time and facilitating at-home testing, especially for high-risk individuals, can be game-changing. Early identification is key, as many therapeutics have the potential to treat or even reverse kidney disease when caught in nascent stages. At?11TEN Innovation Partners, we understand the urgency. That's why we're dedicated to fostering the development of digital tools and workflows that not only enhance patient engagement but also pave the way for early detection. In collaboration with Pharma and Digital Health Organizations, we're crafting solutions that aim to turn the tide on CKD. ? During this National Kidney Month, let's commit to raising the bar for awareness and care accessibility. Reach out to us at?[email protected]?to explore the impactful endeavors our partners are engaged in to tackle kidney disease head-on. ? #NationalKidneyMonth?#EarlyDetection?#DigitalHealth?#11TEN?#RealizingInnovationTogether ?

Experts from Broad Clinical Labs, AstraZeneca, Lundbeck discussed "Improving Patient care Through Novel Biomarker Discovery" with Tim Billiar (Billiar Timothy), Executive Vice President and Chief Scientific Officer, UPMC at UPMC Enterprises' #TopofMind Summit: Life Sciences today. #PrecisionMedicine is advancing beyond oncology, with advanced #biomarkers playing a crucial role in segmenting patients with multi-factorial diseases. This session explores the evolution of biomarker discovery, multi-modal biomarkers, spatial omics, and the importance of data sharing and patient involvement in accelerating discovery. ?