MOLGENIS’ Post

🎉🔬✨ Tigem Celebrates the Rare Disease Day ✨🔬🎉 Today, we at Telethon Institute of Genetics and Medicine proudly join the global community in commemorating Rare Disease Day—a time to honor the strength, resilience, and extraordinary journeys of individuals living with rare diseases, as well as their families and caregivers. Rare diseases may affect only a small percentage of the population individually, but collectively they impact millions worldwide. At Tigem, we understand the unique challenges faced by those living with rare diseases and are dedicated to advancing research, understanding, and support for these communities. From pioneering genetic discoveries to innovative therapies, Tigem has been at the forefront of rare disease research for decades. Our commitment to unraveling the complexities of these conditions drives us forward each day, as we strive to improve diagnosis, treatment, and ultimately, the quality of life for those affected. Today, as we celebrate Rare Disease Day, we reaffirm our dedication to collaboration, advocacy, and empowerment. Together with our partners, collaborators, and the rare disease community, we continue to push the boundaries of knowledge and innovation, seeking solutions that bring hope and healing to all. Join us in honoring Rare Disease Day and standing in solidarity with those whose lives are impacted by rare diseases. Together, we can make a difference. #RareDiseaseDay #Tigem #Genetics #Medicine #Research #Hope #TogetherWeCan

Check out the blog that I wrote for National DNA Day. I tried to draw parallels between the obstacles faced in discovering the structure of the DNA molecule to the challenges faced by people living with rare diseases. "Similar to the complexity and elusiveness of DNA’s structure, rare diseases are often shrouded in uncertainty and present complex challenges in diagnosis and treatment. Yet, just as scientists did not give up until DNA’s structure was cracked, rare disease advocates and researchers demonstrate unwavering determination and resolve to continue the fight until every rare disease is understood, treated, and ultimately, cured." https://lnkd.in/e_sYgvv4 #DNADay #raredisease #geneticeducation #patientadvocacy #geneticdisease #careaboutrare #GlobalGenes

🌟It’s Rare Disease Day 2024🌟   Today, we honour the 300 million people worldwide living with a rare condition.   We are thrilled to announce our collaboration with Genetic Alliance UK in honour of Rare Disease Day. Genetic Alliance campaign for timely diagnosis, better coordinated care, and improved screening, testing, services and treatment.    We supported Genetic Alliance to develop a compelling infographic that aims to raise awareness about current access challenges in rare disease medicines and the challenges faced by patients and their families.   This collaboration brings together our expertise from our Health Technology Assessment (HTA) Tracker with Genetic Alliance's commitment to advancing health through the greater understanding of rare diseases. The Rare Disease Day infographic serves as a visual representation - shedding light on the importance of early diagnosis, proper medical management, and the significance of ongoing research in the field. View the full infographic here: https://lnkd.in/eh87DDsw   #RareDiseaseDay2024 #GeneticAlliance #RareDiseaseTreatments

The future of rare disease research is here now. With the power of highly accurate long-read sequencing technology, researchers are unraveling the mysteries of rare diseases that have remained unsolved for far too long.   Take a journey back to 1993 and read this foundational paper about how researchers unlocked the secret of Huntington’s Disease: https://bit.ly/3N6dRD1 Explore how #HiFisequencing is continuing to accelerate rare disease research today and beyond: https://bit.ly/3XRn9Ye #Revio #PacBio #WelcomeToTomorrow

On this Rare Disease Day, 29 February, we stand in solidarity with the 300 million people worldwide battling rare diseases, along with their families and caregivers. At Constantiam Biosciences, we're committed to making a difference in their lives through innovation and research. Our platform, MAVEvidence, is at the forefront of this mission, providing crucial insights into the genetic basis of rare diseases. By empowering scientists and clinicians with precise, actionable data, we're helping to unlock new pathways for diagnosis, treatment, and ultimately, hope. Today, we reiterate our dedication to advancing the science of genetics, striving to bring light to those affected by rare diseases. Together, we can generate the change needed to improve lives and foster a future where no disease is too rare to care about. #rarediseaseday2024 #MAVEvidence #ConstantiamBiosciences #genetictesting

🚀 Exciting opportunities in EU funding for rare disease research are on the horizon! 🌍✨ 👉 Follow #ERDERA for updates on new opportunities that can drive real change in healthcare by advancing prevention, diagnosis, and treatment of rare diseases. #RareDisease #ResearchInnovation #EUFunding #HealthcareInnovation

I am excited to share that a preprint of our manuscript, focused on adjusting for inter-individual variability in general levels of brain-derived proteins in CSF, is now available on MedRxiv! Our study demonstrates that this adjustment significantly enhances the ability of CSF proteins to distinguish between neurodegenerative and healthy conditions. Additionally, we provide a cross-disease comparison of the measured protein profiles, underscoring the broad disease-unspecific nature of the protein alterations and highlighting the necessity for more cross-disease designs in diagnostic biomarker discovery. If you're interested, you can explore our findings here:

Upcoming webinar on mini-organs - for the organoid-curious!

#ShowYourStripes for Rare Disease Day 2024! Today marks Rare Disease Day, a global initiative dedicated to promoting equality in social opportunities, healthcare access, and the availability of diagnosis and treatments for individuals affected by rare diseases. Rare diseases are individually rare but collectively common, with 3.5 million people affected in the UK. 70% of rare diseases start in childhood, and around 80% are genetic in origin. The National Genomic Test Directory for Rare and Inherited Disease sets out the genomic tests available on the NHS: https://buff.ly/3o1TddQ NHS East Genomics – who oversee and support genomic and genetic testing for our region - have put together some information on what’s happening locally and how to get involved: https://buff.ly/42SIItQ #RareDiseaseDay

The Rare Disease Moonshot thanks the EJP RD and welcomes the European Rare Diseases Research Alliance (ERDERA) 🚀🏃♀️🔬 Why it's a game-changer 👇 𝗥𝗲𝘀𝗲𝗮𝗿𝗰𝗵 𝗮𝘀 𝗮 𝗻𝗲𝘄 𝗺𝗶𝗻𝗱𝘀𝗲𝘁 𝗮𝘀 𝗮 𝗰𝗼𝗵𝗲𝗿𝗲𝗻𝘁 𝗿𝗲𝗹𝗮𝘆 𝗿𝗮𝗰𝗲 ERDERA reimagines research as a seamless and coherent relay, transforming the traditionally siloed approach to RD research. In this innovative model, academia, industry, patients, and regulators form a cohesive team, each playing a crucial role in passing the baton of knowledge without dropping it. Unlike the conventional research pipeline where handoffs between stakeholders often led to delays or miscommunication, ERDERA brings industry in as a true partner from the very beginning. This early integration creates a coherent ecosystem that minimises fumbles and maximises progress throughout the entire research lifecycle. By fostering continuous collaboration and open communication, ERDERA ensures that insights, resources, and expertise flow smoothly between all participants, accelerating the pace of discovery and increasing the likelihood of translating research findings into tangible benefits for patients with rare diseases. No more "academia develops, industry commercialises" - ERDERA is ushering in an era of integrated, coherent collaboration from day one. 𝗔𝗰𝗰𝗲𝗹𝗲𝗿𝗮𝘁𝗶𝗻𝗴 𝗶𝗻𝗻𝗼𝘃𝗮𝘁𝗶𝗼𝗻 𝘄𝗶𝘁𝗵 𝗰𝗼𝗹𝗹𝗮𝗯𝗼𝗿𝗮𝘁𝗶𝗼𝗻 ERDERA acts as an accelerator, speeding up the research process and fostering an ecosystem that swiftly translates discoveries into patient benefits. This public-private partnership demonstrates how combining diverse expertise can effectively tackle rare disease challenges. 𝗔 𝗺𝗼𝗱𝗲𝗹 𝗳𝗼𝗿 𝗳𝘂𝘁𝘂𝗿𝗲 𝗵𝗲𝗮𝗹𝘁𝗵 𝗽𝗮𝗿𝘁𝗻𝗲𝗿𝘀𝗵𝗶𝗽𝘀 The Rare Diseases Moonshot's collaborative spirit, as embodied by ERDERA, is already influencing other health partnerships. This approach has the potential to become a blueprint for partnerships in other medical domains, showing how to create more effective, efficient, and impactful research ecosystems across the healthcare landscape. This launch marks a pivotal moment in rare disease research and beyond. It's about reimagining how we collaborate to solve complex health challenges, ensuring that the research 'relay race' moves smoothly and swiftly towards the finish line of patient benefit. How do you see this 'coherent relay race' model changing rare disease research and innovation ecosystem, and what role can your organisation play? International Rare Diseases Research Consortium (IRDiRC) ERDERA EFPIA - European Federation of Pharmaceutical Industries and Associations EURORDIS-Rare Diseases Europe EUCOPE - European Confederation of Pharmaceutical Entrepreneurs EuropaBio - the European Association for Bioindustries Critical Path Institute (C-Path) EATRIS BBMRI-ERIC ECRIN (European Clinical Research Infrastructure Network)