Elastrin Therapeutics’ Post

This #RareDiseaseDay, we're shining a light on the power of innovation and collaboration! Thanks to Indiana University researchers and the Innovation and Commercialization Office, groundbreaking therapy Burosumab is bringing hope to children fighting rare diseases like X-linked hypophosphatemia and tumor-induced osteomalacia. Read the inspiring #BetterWorldProject story here: https://bit.ly/3YaCiCh

There are 12.4M people worldwide who are affected by the most common type of polycystic kidney disease (PKD) called Autosomal Dominant (ADPKD). Autosomal Recessive is a rarer form that occurs in 1 in 25,000 children worldwide. Neither of these chronic kidney diseases can be cured. Otsuka’s perseverance in developing treatments for people living with kidney disease has led to breakthroughs that have helped change the landscape of treatment options and set the stage for other new developments in nephrology. In addition to drug development, we have spent years advocating on behalf of patients through programs and institutions focused on kidney disease. We will continue to serve our patients and clinicians each and every day, so they can achieve more than they thought was possible. Help spread awareness about PKD by learning more here: https://bit.ly/3QOhmAY https://bit.ly/4cSEHsA

To mark Rare Disease Day 2024, this week we are exploring four critical elements to sustaining rare disease innovation in Europe. Today focuses on requirement #3: Supportive P&R. Whether a medicine exists matters little for patients who cannot receive it because it is not reimbursed. Reimbursement is also key for manufacturers who rely on the sale of medicines to recover their considerable investment in development and to support their future pipeline. Continued innovation and access in rare disease in Europe relies on country-level pricing and reimbursement (P&R) approaches that can recognise and reward promising orphan developments. But this is by no means simple since many extremely novel, transformative treatments fall foul of traditional P&R systems designed for chronic therapies in common conditions. One example is cell and gene therapies. These unique treatments present immense value owing to their one-time, potentially curative profile. They also come with a significant price tag, complex delivery, and an inevitable degree of uncertainty around long-term benefit. In our recent paper for the Alliance for Regenerative Medicines (ARM), Dolon's Managing Director, Adam Hutchings, explores these challenges and their implications for P&R, patient access, and the sustainability of ATMP innovation in Europe. In particular, we focus on innovative contracting as an opportunity to mitigate these challenges as well as recent learnings from manufacturers’ experience in negotiating these. P&R frameworks need to evolve with science if they are to fully reflect the value of emerging therapies to patients and health systems alike. Failure to do so will come at the expense of patients and health systems today, and Europe’s standing as a global centre for innovation in the longer term. Read on to learn more: https://bit.ly/42UC0Uf #RareDiseaseDay2024 #RareDiseaseDay #RDD2024 #LightUpForRare #ShareYourColours #RareDiseases #RareDiseaseAwareness #RareDiseaseInnovation #Dolon

May is #LupusAwarenessMonth! At Alumis, we're committed to improving the lives of people living with lupus by shedding light on this complex autoimmune disease and advancing clinical research. Recognizing the disparities in #lupus care, especially in under-resourced regions, we’re proud to be a member of the Lupus Research Alliance 's Lupus Accelerating Breakthroughs Consortium (Lupus ABC), to pioneer better endpoints and advance more impactful clinical trials. Learn more how you can get involved in supporting the lupus community: https://lnkd.in/esmUVvvw #LupusAwareness #LupusResearch

#MetX, funded by the Metrodora Foundation and in partnership with Metrodora Institute and PrecisionLife, is a first-of-its-kind study to create more accurate diagnostics and precision therapies for patients living with complex multisystem disorders. The first participants have begun receiving their #WGS results in detailed research reports with PrecisionLife insights that identify the possible underlying mechanisms of their disease - a significant breakthrough in #PrecisionMedicine for complex diseases. Read more in the Metrodora Foundation newsletter ft. Amy Rochlin and Steve Gardner. ➡️ https://lnkd.in/ebgrcAve

If you are in Sydney this weekend, you still have a few days left to register for the Meso March this coming Sunday 16 June https://lnkd.in/gFtQf7pK Also while you're registering for the MM, like the Asbestos and Dust Diseases Research Institute (ADDRI) LinkedIn page and get important information about the work that we do to support #asbestos and #silica dust diseases patients and their families. #mesothelioma #asbestosrelateddiseases #silicosis #dustdiseases

"World Snake Day" A day for one of most mesmerizing creatures on this planet. Snakes have always been associated with danger, while it stands true for many parts of the world, this venom is also carries immense potential for innovative therapeutics. Let's work towards raising awareness for snake bite and effective approach in treating the bite victims. Let's work towards researching innovative use of Snake venom for various therapeutic applications. #worldsnakeday#NTD#WHO

Today, we celebrate International Mastocytosis and Mast Cell Diseases Awareness Day alongside a community of patients, families, advocacy organizations and disease experts. In partnership with the mast cell disease community, we've pioneered systemic #mastocytosis (SM) research and the development of innovative medicines for more than a decade. Our vision is a future in which individuals with SM can pursue their life goals unimpeded. We know that advancing science is just one piece of the puzzle. In our blog, read how we work to strengthen the understanding of SM and other mast cell diseases through patient support initiatives, collaborations and storytelling: https://bit.ly/4f5dHYm #MCAD

We are excited to share the success of UTOPIA (Unlocking Treatment Options Personalized In-Time Access), a digital platform co-designed by the Rare Care Centre at Perth’s Children Hospital and KK Women's and Children's Hospital in Singapore. UTOPIA streamlines care pathways for children with rare diseases, diagnosed or undiagnosed, by leveraging AI to generate a personalized patient profile, including the likely trajectory of the disease’s evolution and how it may affect the child physically and behaviorally. This innovative tool has already cut the time to develop care plans in half and is helping families connect to essential resources and support. UTOPIA’s impact is profound, with approximately 180 patients in Australia benefiting from individualized care plans. In Singapore, the platform is enhancing understanding and support for RASopathies, a clinically defined group of medical genetic syndromes caused by germline mutations in genes. By bridging gaps in access to advanced diagnostics, UTOPIA is transforming the way children and their families receive care. Learn more about this important initiative and how its success can be duplicated: https://lnkd.in/e2vEWaK4 If you have any questions about implementing this case study or would like to submit your own, please contact us at info@globalrarediseasecommission.com. #GlobalCommission #EquippingProviders #RASopathies

🩸 Hello, dear friends! Today we want to talk about something incredibly important: raising awareness about Myeloproliferative Neoplasms (MPNs). These conditions can be challenging, but through education, support, and empowerment, we can make a significant difference in the lives of those affected. 📚 Understanding MPNs is the first step toward making a positive impact. These rare blood cancers require a nuanced approach to treatment and care. Knowledge empowers patients and their families, leads to earlier diagnoses and better outcomes, and fosters stronger, more effective communities. 👥 Want to learn how you can help and get more information on supporting those affected by MPNs? Visit our latest blog post and join our mission. Together, we can make a difference! #MPNEspaña #MPNSpain #MPNsm #MPN https://lnkd.in/d4cHJntU