EI Cure Project

Wishing everyone a very Merry Christmas from all of us at the EI Cure Project! 🥳🎄❄️ We’ve had a phenomenal year, and it’s all thanks to your support!🤩 By choosing to support our cause, you have given hope to our EI community, and you’ve helped us to fund some really awe-inspiring research projects! 🤘 Thank you so much and we wish you all a beautiful Christmas with your loved ones 🥰 #eicureproject #hope4ei #findacure #epidermolyticichthyosis #christmas2024

This is me (Helen Lill) with Dr Lisa Weibel. She’s the Head of Pediatric Dermatology at Zürich Children’s Hospital and we first met when Arienne was just 2 days old. Dr Weibel has always been a calm and reassuring presence in our EI journey, and she has also been a great advocate of the EI Cure Project. Here we are together, nearly 6 years after that first meeting, and I am now glad to call her a friend. Dr Weibel invited me to speak about the patient and parent experience of having a rare skin disease at a Pediatric Skin Day hosted by her dermatology team in Zürich. I was also honoured to follow Professor Cristina Has, one of our EI Cure Project Research Alliance, who did a fantastic presentation about all the different types of ichthyosis. It was a fantastic experience, and I was delighted to educate over 200 dermatologists and Pediatricians about EI and the barriers faced in healthcare by the rare disease community. It was also such a pleasure to talk about EI Cure Project and all the positive work we’re doing with such an inspiring team of researchers. https://lnkd.in/evm_X_pQ Many thanks to Dr Lisa Weibel and her team, for being open to inviting a rare disease advocate into such a big forum and for being such a warm and welcoming team! 🥰 #eicureproject #epidermolyticichthyosis #RareDERM #rareparent #rareadvocacy #zurichkinderspital #pediatricdermatology

EI Cure Project is pleased to announce our support for our THIRD Gene-Editing Research Project! This a 3 year PhD project at the St John’s Institute of Dermatology, London: “Development and testing of Gene-Editing for Epidermolytic Ichthyosis” led by the truly brilliant Dr Joanna Jacków-Malinowska and Professor John McGrath. These two experts are world-renowned for their work on gene-editing for Epidermolysis Bullosa. We are so excited to be able to harness their expertise for this little-known blistering form of Ichthyosis. This research would not have been possible without collaboration with UK Charity Rosetrees. Huge thanks to Dr Vineeth Rajkumar and the Rosetrees team for supporting this project. The future is looking so much brighter for the EI community already. Let’s reach for the sky and find a cure for EI! #eicureproject #hope4ei #epidermolyticichthyosis #RareDERM #findacure #geneediting #BaseEditing #primeediting #pastetechnology #CRISPRTechnology #theotherblisteringskindisease #ichthyosisawareness

🚨Would you be able to recognise when EI skin needs HELP?🚨 Epidermolytic Ichthyosis is so rare that one of the BIGGEST CHALLENGES faced by our community is being able to get help when we need it. Would you believe that many of the people with sore skin shown in the RED pictures were turned away by their Doctors?! Seems crazy doesn’t it! 😢 And yet it happens almost every week to a member of our community. They visit their Doctor, the Doctor tells them it’s normal to experience blisters, redness, and odour in EI, and they refuse to do a swab which would help to confirm the infection. It means we spend a lot of time going from doctor to doctor, bouncing from family doctors to emergency care until the infection gets so bad that someone eventually helps. Sometimes no one helps, and the results can be FATAL. Yes, that’s right, a skin disease can cause death by SEPSIS. 😨 So this post is about recognising when EI skin needs HELP! The BLUE images show healthy EI skin, the RED images should ALWAYS warrant a swab! One of our EI Cure Project goals for the coming year is to publish consensus guidelines for the management of skin infections in EI to ensure Doctors get the support they need when meeting someone with EI in need. Please help us to continue this important work, and help us to avoid the death of anyone else due to a lack of awareness. https://lnkd.in/e7f-R8ED Thank you 🥰 #eicureproject #theotherblisteringskindisease #hope4ei #consensusguidelines #RareDERM #GlobalSkin #dermatology #epidermolyticichthyosis #ichthyosisawareness

EI Cure Project UK is pleased to announce the start of our SECOND Gene-Editing Research Project! 🙌 This is a 2-year Post-Doctoral Research Project led by Professor Wei-Li Di of University College London, and Professor Gill Elliot from the University of Surrey, UK. This Preclinical research aims to develop a topical gene-therapy for the treatment of Congenital Ichthyosis using engineered virus-like particles (eVLPs). This is quite a novel approach to gene-editing in the field of genodermatoses, but Professor Elliot has extensive knowledge of eVLPs and is optimistic that the success seen in other diseases is transferable to skin. We are very excited to combine Professor Di’s experience of ichthyosis with Professor Elliot’s expertise with eVLPs. The hope is the realisation of a truly non-invasive topical treatment for congenital ichthyosis. If you’d like to support our research, please visit: https://lnkd.in/e7f-R8ED If you’d like to know more about this exciting research project, visit our research page: https://lnkd.in/evm_X_pQ Thank you 🥰 #eicureproject #hope4ei #findacure #epidermolyticichthyosis #PrimeEditing #BaseEditing #geneediting

EI Cure Project is pleased to announce our support for a 1-year research project led by Dr Leonie Frommherz and Professor Cristina Has: “Influence of inflammation parameters and signalling cascades for potential therapeutic approaches in Epidermolytic Ichthyosis: a comprehensive analysis integrating proteomic and RNA-Sequence data”. These two wonderful dermatology scientists were key members of the team who recently published the largest population study of EI ever seen: https://lnkd.in/e47a6eBF This new research project aims to build on this work and stands to become the largest evaluation of biological data on EI. Whilst the EI Cure Project is committed to finding a gene-editing solution to cure EI, we also recognise that the EI Community needs better options to relieve symptoms NOW! The aim of this new project is to understand those symptoms better by exploring diagnostic bio markers, and to hopefully identify some new therapeutic targets for drug repurposing. We are excited that this project could lead us to new solutions within the immediate future. Thank you so much Leonie and Cristina, it’s so great to have you in our corner! 🥰 #eicureproject #hope4ei #drugrepurposing #proteomics #RNAsequencedata #epidermolyticichthyosis #ichthyosisawareness #ichthyosisresearch #RAREderm #dermatology

EI Cure Project is pleased to support a 3-year PhD project at Medizinische Universität Innsbruck, Austria: “Delivery of keratinocyte-targeting nano-carriers loaded with gene editing tools to skin” led by the super scientist duo of Dr Daniela Ortner-Tobider and Professor Matthias Schmuth. Dr Daniela Ortner-Tobider is a talented scientist and is the head of a molecular biology team investigating gene therapy for genodermatoses. Professor Schmuth is one of the founding researchers of the EI Cure Project. Without his enthusiasm for working with patient advocacy groups, the EI Cure Project would not exist. He has dedicated much of his lifetime research to the barrier function of the skin, and is considered one of the world experts on ichthyosis. I could not be more pleased to be able to support this project with him. This research would not have been possible without collaboration with the University and with US non profit Pachyonychia Congenita Project (PC Project). Huge thanks to Janice Schwartz and the PC Project team for being open to a collaboration for this fantastic project for keratinisation disorders, and for your support as a fellow rare disease advocate. The future for the PC and EI Communities and our hopes for a cure are in safe hands with this amazing team. Thank you #eicureproject #hope4ei #epidermolyticichthyosis #RAREderm #theotherblisteringskindisease #findacure #geneediting #baseediting #CRISPRTechnology #lipidnanoparticles

Here at the #eicureproject we are already making plans for RARE DISEASE DAY 2025! Did you know that whilst individual diseases can be as rare as 1 in a million, there are so many different rare diseases out there, that as many as 1 IN 20 PEOPLE will be affected with a rare disease at some point in their lifetime! The problem with this is that only 5% have the chance of a cure or any kind of treatment. That means we have approximately 285 million people living in the world who have no chance of help or understanding about their disease. WE HAVE TO CHANGE THAT!!! Rare Disease Day is all about telling the world about these people and making their future brighter. Offering the chance of recognition, support, unity, and research. We are making BIG plans over here, so watch this space and join in the fun where you can! If you can’t join us, maybe you can find your own special way to highlight the day! Thank you for considering 🥰 #eicureproject #hope4ei #findacure #epidermolyticichthyosis #rarediseaseday2025 #RareDERM #RareGeneration

I’m honoured to have been invited to join the Opsahl Global Service Program at The American School in Switzerland (TASIS) to teach a group of twenty 10th grade students about the global health challenges associated with Rare Diseases. Every Wednesday our students spend a precious 30 minutes exploring why rare diseases should be on the curriculum of every forward-thinking school! Last week the students took a deep dive into research, and were tasked to research a rare disease of their choosing and will deliver presentations to the rest of their peers in Week 11. They have all been able to find the facts, and now I am challenging them to find the human story beyond the aetiology: what is it really like to live with this rare disease? It is truly an honour to be here with these students. It is incredibly eye-opening for them, and I’m certain that their understanding of humanity and what it means to be healthy is shifting every time they visit my classroom. I can’t wait to see their presentations! #Tasis #tasisservicelearning #globalservicelearning #eicureproject #findacure #hope4ei #RareDisease #RareDiseaseResearch #RareDiseaseDay #rarediseaseeducation #RareDiseasesInternational #rarediseaseadvocate #rarediseaseadvocacy

When you have a Rare Disease, the saying “You’re in the best place possible” when referring to a hospital or clinic often doesn’t apply! 😳 Here is a summary of the healthcare challenges that people affected by Epidermolytic Ichthyosis (and most rare diseases) typically face when in a healthcare setting. Can you imagine how it feels to walk into a hospital or doctor’s office knowing that you probably won’t get the help that you need? That’s what it’s like when you have a rare disease. You feel like a failed experiment waiting to happen, and it can make you very anxious. Patient advocacy and support groups like the EI Cure Project are working to change this. We want to educate professionals and provide the resources that affected people need in order to feel empowered and confident that the right treatments are on offer. Please help us achieve this by supporting the EI Cure Project: https://lnkd.in/e7f-R8ED Thank you 🥰 #eicureproject #hope4ei #FindACure #RareDERM #rarediseaseday #epidermolyticichthyosis #ichthyosisawareness #dermatology #theotherblisteringskindisease