Institut de Recerca Sant Joan de Déu EUPATI 👩‍👧 You can also take part in this project! If your child has a #raredisease, please complete the brief questionnaire at the end of the blog and help make European paediatric #clinical studies more accessible ✍️ share4rare.org/news/language-…

🔬🧬 A research team at St. Jude has shown that early screening can detect new #cancers in paediatric patients with a genetic predisposition. 💪 Half of the #tumours could be removed using only #surgery, avoiding toxic chemotherapies or radiotherapies 👉 share4rare.org/news/early-scr…

🎉 The Spanish association #AESCOV has now joined our community. Welcome! 🤗 If you belong to a #patient organisation, request a profile on #Share4Rare ✍️ share4rare.org/patient-organi… #rarediseases #raresyndromes #vascular #patientengagement #collaborativeresearch

🚀 Reminder: Our survey on Rare Diseases research tools by EJP RD is live! 🧬🔬 Your insights are vital to improving our resources and shaping the future of rare diseases research. Don't miss out! Take the survey now! 👉 forms.office.com/e/JyccyPRQ7t

Looking for a profile frame, signs or other awareness downloads? Visit this page on the official International Autoinflammatory Awareness Month site. More graphics are coming! autoinflammatorymonth.org/downloads/ #autoinflammatoryawareness #august4autoinflammatory #autoinflammatory #hope4said

📚 At #Share4Rare, we have a collection of 𝗺𝗲𝗱𝗶𝗰𝗮𝗹 𝗯𝗼𝗼𝗸𝘀 about specific #rarediseases or groups of diseases that have emerged from various #collaborativeresearch projects we have initiated. Check them out 👉 share4rare.org/diseases/libra… #rarediseases #raresyndromes

📣 We are looking for patients with a 𝗻𝗲𝘂𝗿𝗼𝗱𝗲𝘃𝗲𝗹𝗼𝗽𝗺𝗲𝗻𝘁𝗮𝗹 𝗱𝗶𝘀𝗼𝗿𝗱𝗲𝗿 𝗮𝘀𝘀𝗼𝗰𝗶𝗮𝘁𝗲𝗱 𝘄𝗶𝘁𝗵 𝘁𝗵𝗲 #𝗦𝗥𝗥𝗠𝟮 𝗴𝗲𝗻𝗲 (OMIM 620439) If you know of any cases, ask them to contact us 📩 and to register on #Share4Rare ✍️ bit.ly/S4R-Registrati…

🔬 A study involving a team from Institut de Recerca Sant Joan de Déu has identified cellular and molecular pathways affected in patients with #PMM2CDG through the development of a computational data analysis technology 💻 🧫 The research was conducted using patient fibroblasts 👉irsjd.org/en/news-and-ev…

✨ Funding for the best #collaborativeresearch initiative in #rarediseases ✨ 🎉 We are extending the deadline for the Share4Rare #Call4Projects and will be granting €6,000 to the best research initiative. Send your proposal now! 👉share4rare.org/news/funding-b…

🎈 Less than a month to go for World Duchenne Awareness Day! We have one message: RAISE YOUR VOICE FOR DUCHENNE. Watch the video by Elizabeth Vroom, chair of the World Duchenne Organization where she calls upon society to fight discrimination in people living with DMD.

Have you consented to take part in genomics research? The Participant Panel at Genomics England is recruiting for a new Chair. Applications close on 30 September. Apply here if you have a passion for patient advocacy: ow.ly/ob3R50SS428

🌴✨We're going on holiday!✨🌴 Our social media will be on a break until September 4th. We will be posting some scheduled content, but responses to messages will be on hold. 📩 For urgent matters, email us at [email protected] and we will get back to you ASAP. See you soon!

👩‍👦 Marta's son Adrià was born with #epidermolysisbullosa, a chronic and severe illness that currently has no cure. Since that day, the association Piel de Mariposa has supported the family through their life journey. Read more 👉 share4rare.org/news/marta-far… #rarediseases #share4rare

🔬🎙️ Dive into #raredisease research with #𝗥𝗮𝗿𝗲𝗛𝗼𝗿𝗶𝘇𝗼𝗻𝘀! ✨ Join us as we explore the latest discoveries, #patient journeys and expert insights. Listen to the #podcast and help spread awareness 👉 shows.acast.com/rare-horizons-…

🔍 Your expertise can make a difference in paediatric palliative care! 🌟 Participate in the #PALLIAKID survey and share your insights to improve the well-being of children with life-limiting illnesses across Europe. ⏳ It only takes 20 minutes: shorturl.at/FlodP

🌍 Calling all 𝗽𝗮𝘁𝗶𝗲𝗻𝘁 𝗼𝗿𝗴𝗮𝗻𝗶𝘀𝗮𝘁𝗶𝗼𝗻𝘀! Open a profile on #Share4Rare and join a global network of individuals with #rarediseases. Boost collaborative #research and connect with others who share your journey ⛵ 💙 share4rare.org/patient-organi…

🧬🔬 The Sant Joan de Déu #Biobank has shared over 2,600 tumour samples with the Institut de Recerca Sant Joan de Déu researchers and institutions worldwide. It is the only maternal-infant biobank in Spain. 🗞️ Read more about this facility: share4rare.org/news/biobank-p… Hospital Sant Joan de Déu Barcelona ES

🔎 When looking for information about #rarediseases, we can encounter misleading data, people promoting #pseudotherapies, and all sorts of unreliable content. 🤔 How can we find trustworthy information? Rewatch our webinar on #pseudoscience 👇 youtu.be/kEwVZMOuWQw?si…