CASK Research UK

🌟 Go Tenley! We're sure you will achieve this! 🌟 A recent paper https://lnkd.in/e7pJrCt2 highlights how a particular form of intensive therapy can be beneficial for children with a CASK gene mutation. We are so grateful to The Fralin Biomedical Research Center in Virginia, USA, for believing in our children and enabling them to be the best and strongest versions of themselves. 🙏Huge thanks to Dr DeLuca who has always believed in our children, to Dory, Mary and all the incredibly hard working OTs who have spent time and energy learning ACQUIRE in order to help our children. 📖 You can read the full paper, which really is a fascinating read, on our website, under the Research tab. __________________ At CASK Research Foundation, we're on a heartfelt mission to bring hope to children and families affected by CASK related disorders. Founded and run by dedicated parents of children with CASK, we truly understand the journey—and we're committed to making a difference! What We Do: 🔬 Fund cutting-edge research to discover treatments & cures. 🤝 Build a supportive community for families navigating this path. 📢 Advocate for awareness, inclusivity, and better resources. This isn't just a foundation; it’s a family. ➡️ Join us in our mission. Visit www.caskresearch.org to learn more, donate, or get involved! #CASKResearchFoundation #ParentsLeadingTheWay #HopeInAction #RareDiseaseAwareness #MakingADifference #raredisease #santaletter #caskresearch #caskcoalition #curecask #micpch

A flashback to over a year ago when we created this eye-catching poster to be shown at the Rare Summit in Cambridge. It's so motivating to realise the progress that has been made in the past 12 months. 🌟We highlighted the need to investigate the potential of gene replacement therapy. Little did we know that Professor Mingshan was already well underway with developing an AAV gene replacement therapy for CASK! 🌟Also this year we've funded Dr Chan, an expert in epilepsy and metabolism, to investigate CASK and metabolism. So that's another of our wish lists ticked off. 🌟 We also created a mortality survey to look at correlations between symptoms and prognosis. The rolling out of this is currently on hold due to lack of funds but we promise we will accomplish this. 🌟 Researchers at Bristol created a survey that went out to all UK registered families. By learning more about our population we will be able to identify end points for clinical trials. We still have a lot of work to do but none of this would have been possible without the support of the community, friends, colleagues, researchers and clinicians. #roadmap #achievements #endofyear #cask #caskgene #raredisease

📢 The #kickingcask podcast has officially launched. 👉 Episode 1 out now on Spotify and Youtube. 🌍Your one stop shop for finding out what is going on in the world of CASK around the world. 📰 Up to date news from the #caskcoalition, there's never been an easier way to stay informed, get involved and Kick CASK together 💪 🇺🇸 🇫🇷 🇬🇧 🇦🇺 🇪🇺 🌍 Spotify: https://lnkd.in/ePEQY_fz YouTube: https://lnkd.in/e-cjxtQb #podcast #caskgene #caskmutation #charitiesunited #strongertogether #micpch #geneticdisorder

👧🧒As a direct result of CASK Research UK and the CASK Coalition the first ever paper has been written on emotions and behaviours in children with CASK disorders. This information empowers families, sets expectations and educates paediatricians. 💪 We are extremely grateful to @cambridgeuniversity for studying our children and we can't wait for parents to have access to their paper, being published in the New Year 🎄 Thank you to all the families who took part in this revealing study 👏 _____________ At CASK Research Foundation, we're on a heartfelt mission to bring hope to children and families affected by CASK related disorders. Founded and run by dedicated parents of children with CASK, we truly understand the journey—and we're committed to making a difference! What We Do: 🔬 Fund cutting-edge research to discover treatments & cures. 🤝 Build a supportive community for families navigating this path. 📢 Advocate for awareness, inclusivity, and better resources. This isn't just a foundation; it’s a family. ➡️ Join us in our mission. Visit www.caskresearch.org to learn more, donate, or get involved! #CASKResearchFoundation #ParentsLeadingTheWay #HopeInAction #RareDiseaseAwareness #MakingADifference #raredisease #santaletter #caskresearch #caskcoalition #curecask #micpch #autism #asd #behaviour #emotionsinchildren

The latest update from Longboard Pharmaceuticals UKRET (UK Rare Epilepsies Together) are in conversation with Longboard pharmaceuticals to ensure all their communities (us!) are kept up to date on the emerging opportunities for clinical trial involvement. Please ensure you are subscribed to our mailing list since we will email the community once UK trial sites are announced. We are grateful to UKRET for spearheading this relationship, saving individual PAGs time and energy. For more information please see https://deepdeestudy.com/ #strongertogether #efficiency #ukret #epilepsyresearch #epilepsy #caskgene #dee #intractableepilepsy #kickingcask

💡Are you part of GenIDA? Pauline Burger explains what this international registry is and how important your participation is! 📝Consisting of just 46 main questions and 41 multiple choice questions this is one of the easier ways to help your community and our researchers. 🌍It is also multilingual - French, English, Dutch, German, Portuguese, Italian, Spanish and Greek! Soon to also be available in Turkish, Romanian and Bulgarian. ❤️So please take a moment to sign up. The information will be used to create scientific publications and guidelines for managing CASK. https://genida.unistra.fr/ Start here, now: https://genida.unistra.fr/ https://lnkd.in/eHMyt7TD

Yesterday was the launch of our fundraiser 'Rare Beauty', which saw 29 pieces of art exhibited in Soho, London. The event was attended by friends, family and supporters of the charity and every piece is now available to bid for online. Bidding closes on November 22nd, perfect timing for those looking for an extra-special and unique Christmas present. You can bid at https://lnkd.in/emNP7jRW Huge thanks to @theparkagency Jack Lamacraft who made everything go swimmingly. Special thanks to all our artists, without whom this fundraiser would not be taking place. #artauction #rarebeauty #raredisease #charityartauction #cask #caskgene #artauction #christmaspresents

I am Enora and I'm aged 3 from Brittany in France. I was diagnosed with MICPCH at 9 months. ❤️ My favourite people are my mum because she gives me big hugs and my dad because he makes me laugh so much 🙊 My proudest moment was when I managed to imitate the sound of a cow once (and we work hard to make it happen again!). ✍️ My current skills include back-to-belly and belly-to-back turning and I work very hard to be able to stay in a sitted position alone. 💻 My biggest struggles are not being able to express myself, heavy pain episode of unknown origin and epilepsy. 🚂 My favourite toys are music books, my swing and my stuffed t. 💬 My current therapies include physio and speech therapy in France or in Spain for intensives. 🎶 Three things I enjoy the most are music, looking at trees and water. #caskdisorder #caskgene #caskstories #meetourwarriors #kickingcask

Finding biomarkers for CASK gene disorders is part of the CASK Coalition's road map. Your donations and support will help us unlock CASK's secrets and accelerate the development and production of treatments. #caskcoalition #caskgene #caskresearch #kickingcask #raredisease #biomarkers #drugdevelopment

Our founder Laura tells us all about her daughter, their struggles and how a treatment would change their lives. Please watch, share and support. We have the capacity to improve families lives 💜 https://lnkd.in/eWdB94pH