CHAMP1 UK

CHAMP1 UK

Non-profit Organizations

Wimborne, Dorset 19 followers

Our mission is to improve the lives of those affected by CHAMP1 disorders.

About us

CHAMP1 UK is a charity created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy among many other diagnoses a result of a change in the CHAMP1 gene. Our mission is to improve the lives of those affected by CHAMP1 through clinical research, effective treatments, public awareness, early detection, family support and patient advocacy.

Industry
Non-profit Organizations
Company size
2-10 employees
Headquarters
Wimborne, Dorset
Type
Nonprofit
Founded
2022

Locations

Employees at CHAMP1 UK

Updates

  • View organization page for CHAMP1 UK, graphic

    19 followers

    View profile for Scott Hutchings, graphic

    Founder & Chair of CHAMP1 UK | Board Member of the CHAMP1 Research Foundation | Senior Technical Support Engineer at Bistech plc

    After taking some time to reflect (and recover from jet lag) on the whirlwind experience that was the CHAMP1 Global Conference 2024 in Orlando, I am still in awe of the entire experience. When we received my daughter Sienna’s diagnosis in 2022, we had no way of understanding what the future would hold—for her or for us. But events like this, and the incredible CHAMP community, have given us something invaluable: hope. On Thursday, I was honoured to become a board member of the CHAMP1 Research Foundation . It’s a privilege to help build on the amazing work already done by pioneers like Jeff D'Angelo and many others before me. On Friday, I had the privilege of meeting 20 CHAMP families from around the world—part of the 200 families affected by this ultra-rare condition. Being surrounded by people who truly understand our journey and watching our children interact and form friendships was deeply moving. We also had a chance to meet 2 other CHAMPs with the same variant as Sienna and share stories with their families. Saturday brought a series of fascinating talks and presentations from leading professionals who had travelled from all corners of the globe to share updates, breakthroughs, and exciting news with us. Later that evening, the board members and researchers gathered for dinner, where I had the honour of sitting next to Dr. Kozo Tanaka, the man who discovered and named the CHAMP1 gene. I also shared drinks and stories with many of the researchers, including Dr. Stefano Berto, who has dedicated his entire lab to CHAMP1 research and is testing a potential treatment for children like my daughter. Dr. Berto has recently been awarded a highly deserved R01 grant from NICHD to further study CHAMP1 over the next five years. Sunday morning brought more insightful talks, but the afternoon was all about bonding with the CHAMP1 community. Most of us ended up at the pool, where we discovered that all our CHAMPs love to splash around together. It was such a heart-warming way to connect. Being part of this event was a tremendous honour. I was proud to represent CHAMP1 UK and to help bring together families and researchers who are all working toward the same goal. The memories and friendships I’ve made will last a lifetime, and I’m more energized than ever to support the CHAMP1 community in every way I can. A heartfelt thank you to all the researchers, the community builders who came before me, those who’ve joined since, and every single volunteer who made this event possible. I can’t wait for the CHAMP1 Conference in Europe in 2025!

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  • View organization page for CHAMP1 UK, graphic

    19 followers

    🌍 CHAMP1 Conference 2025: Europe, Here We Come! 🌍 We’re thrilled to announce that our next CHAMP1 Conference will be held from October 30 to November 1, 2025, and it’s between two incredible locations: Italy or Spain! 🇮🇹🇪🇸 This event will bring together our global CHAMP1 community to share insights, research, and support. Stay tuned for updates as we finalize details—see you in Europe! #CHAMP1Conference2025 #CHAMP1Research #GlobalCommunity #ItalyOrSpain #SaveTheDate

  • View organization page for CHAMP1 UK, graphic

    19 followers

    🌟 CHAMP1 Conference 2024 Spotlight! 🌟 Meet some of the incredible founders and board members who drive the CHAMP1 Research Foundation forward: 📍 Jeff and Katis D'Angelo from CHAMP1 Research Foundation USA 🇺🇸 📍 Daniele Palumbo, founder of CHAMP1 Research Foundation Europe 🇪🇺 📍 Scott Hutchings from CHAMP1 Research Foundation UK 🇬🇧 📍 Stephanie Lanning, USA board member and RARE-X program community engager Although @Aguglia from Brazil couldn't attend in person, she was contributing to our mission from afar updating our social media. We’re so proud of our team and the love and dedication that goes into each step. It’s not easy balancing life as CHAMP1 parents with the demands of a foundation, but we’re here for our community, together! 💙 Thank you so much for all parents and CHAMP1ONs who attend the 2024 conference. #CHAMP1Conference2024 #CHAMP1Community #RareDisease

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  • View organization page for CHAMP1 UK, graphic

    19 followers

    🧬 CHAMP1 Disorders: Clinical and Genetic Heterogeneity 🧬 Dr. Marcela Zolino from Global Business Management Unicatt 🇮🇹 presented her latest findings on the diverse genetic categories of CHAMP1 disorders, including truncating variants, missense mutations, and 13q34 deletions. This work sheds light on the complexity within CHAMP1-related conditions, bringing us closer to tailored treatments! 📺 Watch the full presentation here: https://lnkd.in/eDkswxN2 #CHAMP1Conference2024 #CHAMP1Research #Genetics #GeneticDisorders

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  • View organization page for CHAMP1 UK, graphic

    19 followers

    🌍 Global Experts at #CHAMP1Conference2024! 🌍 Yesterday’s remote sessions brought new insights from incredible experts: 👩🏻🔬 🇫🇷 Coline Cormier discussed GI findings and treatments for CHAMP1. Watch her full presentation here: https://lnkd.in/eXCYHuKV 👩🏻💻Dr. Katharina Schlacher presented on Mitochondrial replication instability and its connection to sex-biased, inflammation-dependent diseases. https://lnkd.in/gDe3TcFB Watch her full presentation here: https://lnkd.in/e_MprdBQ 👨🏻🔬Dr. Richard Boles shared knowledge on Cyclical Vomiting and its implications for CHAMP1 patients. Watch his full presentation here: https://lnkd.in/eTQUU5TP Grateful for our remote speakers pushing forward CHAMP1 research from afar! #CHAMP1Research #RareDisease #GlobalScience #CHAMP1Conference2024 #GeneticResearch #MitochondrialHealth #MedicalExperts #PatientCare #ResearchCollaboration

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  • View organization page for CHAMP1 UK, graphic

    19 followers

    🤖 AI-Driven Drug Repurposing for Rare Diseases! 🤖 Yesterday at #CHAMP1Conference2024, Nate Fehrmann from The Hugh Kaul Precision Medicine Institute, University of Alabama at Birmingham, shared groundbreaking insights on how AI-driven drug repurposing can accelerate treatments for rare diseases like CHAMP1. Innovation meets hope! 📺 Watch his full presentation here: https://lnkd.in/epVAGNQC #RareDiseaseResearch #DrugRepurposing #PrecisionMedicine #CHAMP1Conference2024

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  • View organization page for CHAMP1 UK, graphic

    19 followers

    🧬 Dr. Joseph D. Buxbaum on Therapeutic Approaches for Rare Genetic Syndromes! 🧬 https://lnkd.in/eB6aRU3z @icahnmountsinai Dr. Buxbaum from Mount Sinai's Seaver Autism Center, NY, shared valuable insights into therapeutic approaches for rare genetic syndromes, including potential treatments for CHAMP1. Exciting possibilities ahead for our CHAMP1 community! 📺 Watch is full presentation here: https://lnkd.in/e3D9xGp6 #CHAMP1Conference2024 #RareDiseaseResearch #GeneticTherapies

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  • View organization page for CHAMP1 UK, graphic

    19 followers

    🎉 Exciting Updates from Dr. Stefano Berto at #CHAMP1Conference2024! 🎉 Dr. Berto shared that Berto Labs has been awarded the largest grant in its history—a 5-year R01 grant from NICHD to support groundbreaking research on CHAMP1's role in brain development. This funding is a monumental step toward understanding and treating CHAMP1-related disorders! Additionally, CHAMP1 was represented at Neuroscience 2024, the largest event in the field, bringing our research to an even wider audience. #CHAMP1Research #Neuroscience2024 #ScientificBreakthrough

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