Foundation for Angelman Syndrome Therapeutics UK (FAST UK)

🧬 Understanding the Genetics of Angelman Syndrome 🧬 Angelman syndrome is a single-gene disorder caused by the loss of function in the UBE3Agene on the maternal 15th chromosome. In a typical person, this gene from the mother is active, while the father’s copy is “silenced” in brain neurons, however for people with Angelman syndrome, the maternal gene isn’t able to be properly read, disrupting the mRNA process that translates DNA instructions into proteins, leading to the symptoms of the disorder. There are six recognized genotypes of Angelman syndrome: * Deletion: 65-75% of cases, where a DNA segment is missing on the maternal chromosome 15q11-13. * UBE3A Mutation: 5-11% of cases, involving small abnormalities in the UBE3A gene. * Paternal Uniparental Disomy (UPD): 3-7% of cases, where both copies of chromosome 15 come from the father. * Imprinting Defect (ICD): <3% of cases, where the mother’s chromosome 15 is blank and copies the father’s. * Mosaicism: 1% of cases, where some cells express UBE3A and others do not. * Other: <10% of cases, where individuals meet diagnostic criteria without identified mutations. Understanding these genotypes helps guide research and treatment development, bringing us closer to a cure. Knowledge is power in the fight against Angelman syndrome! 👉 Learn more on our website https://lnkd.in/ebQfgC36 #CureAngelman #GeneticResearch #AngelmanSyndrome #FASTUK #AngelmanSyndromeAwareness

A big thanks to Colin Farrell for your dedication and advocacy for the #AngelmanSyndrome (AS) community. The establishment of the Colin Farrell Foundation will help to further provide essential resources and support for individuals living with AS and other intellectual disabilities.   Read the full story: https://lnkd.in/gQqzBuTK   #RareDisease

🏃🌟Support FAST UK at the Great South Run! 🌟🏃🏻♀️ The Great South Run, Portsmouth’s most iconic 10-mile event. Whether you’re going for the full 10 miles or the 5k option, this race offers stunning sea views, and an unbeatable atmosphere. With cheering crowds, lively music, and a well earned finisher’s medal, it’s no wonder 99% of runners recommend it! This year, make your run even more meaningful by supporting FAST UK. Register to run on our behalf, and we’ll contribute to your registration fee and send you a free FAST UK t-shirt 💙 Together, we can make strides toward a brighter future for those with Angelman syndrome. 📧 Contact us now: info@cureangelman.org.uk Run for a cause, and help us change lives! 🌟   #FundraiseFriday #GreatSouthRun #FASTUK #AngelmanSyndrome #RunForACause #MakeADifference

Neuren Pharmaceuticals announced top-line results from its Phase 2 clinical trial of NNZ-2591 in children with Angelman syndrome (AS). Learn more: https://buff.ly/4dINmPj

🔬 Spotlight on Professor Laurent Servais 🔬 Professor Laurent Servais is a renowned neurologist dedicated to improving the lives of those affected by Angelman syndrome (AS), a neurogenetic disorder. Prof. Servais has been deeply involved in advancing research and clinical trials that focus on innovative treatments. He has contributed valuable expertise to the GTX-102 Phase 1/2 clinical trial, which explores new therapeutic avenues for AS. Prof. Servais has also played a significant role in other pivotal research efforts and is a key voice in the scientific community. His work emphasises the importance of turning groundbreaking research into real-world treatments. He believes that “Innovation in medicine is not just about developing new therapies, but about making sure those therapies reach the people who need them most.” His commitment to this mission continues to inspire hope and progress within the AS community. 🌟 Learn more about his work at https://lnkd.in/ehDSbgkV #AngelmanSyndrome #Research #LaurentServais #FASTUK #CureAngelman

✨ Colin Farrell Opens Up About His Son James ✨ Colin Farrell has shared a heartfelt glimpse into life with his son James, who has Angelman syndrome. Farrell spoke about the challenges and joys of raising James, emphasising his pride and the love he feels every day. 🎥 https://lnkd.in/epxRMJ6M https://lnkd.in/eApSh4d3?

🧬 What is Angelman Syndrome? 🧬 Angelman syndrome (AS) is a rare genetic disorder that primarily affects the nervous system. It’s caused by a loss of function in the UBE3A gene, which is critical for brain development. This disruption can lead to challenges with movement, speech, and learning. Key Symptoms Include: * Delayed development * Lack of speech * Seizures * Problems with balance and coordination Despite these challenges, individuals with Angelman syndrome are often known for their happy demeanor, frequent laughter, and love for social interaction. Understanding the genetic cause of AS is crucial as it drives ongoing research into potential therapies, including gene therapy, that could one day provide a cure. Stay tuned as we dive deeper into the science behind Angelman Syndrome over the coming weeks! 🔬 Learn more about the science behind AS at www.cureangelman.org.uk #AngelmanSyndrome #Genetics #UBE3A #RareDisease #FASTUK #Research #CureAngelman

🌟 Fundraising Spotlight 🌟 A huge THANK YOU to Sarah Page and Mike Hazel, whose incredible fundraising efforts have been driven by their love and commitment to their beautiful daughter, Winter-Rose, who lives with Angelman syndrome. Sarah and Mike, your dedication has made a significant impact, helping us get one step closer to finding a cure for Angelman syndrome. Sarah has shared the total raised on her JustGiving page, be sure to check it out! https://lnkd.in/eNPzPP4U In addition to organizing an Easter egg hamper raffle, Sarah has been busy crafting and selling wax melts, while Mike has been Sarah's rock throughout the journey. As Sarah says, "Without him, I'd have never been strong enough to have gone ahead and make this happen." Mike is also training hard for the Great South Run! You can support him or follow his journey on Facebook—let’s cheer him on together! 🎉 In Sarah’s own words: "Thank you to everyone who has been supporting us and to all those who have been so generous and donated, it honestly means the absolute world to us. Every pound raised brings FAST one step closer to finding a cure. Together, we can make a difference. This wouldn't be possible without all you lovely people who are helping make this happen, not only for our beautiful baby girl but for all those living with Angelman syndrome." We can't thank you both enough for your incredible efforts and the hope you've brought to our community. Together, we're making a real difference. 💙✨ #FASTUK #AngelmanSyndrome #TogetherWeCan #FundraisingSpotlight #CureAngelman

EDIT: The zoom start time changed to 9pm ET; we apologize for any inconvenience. FAST and ASF are excited to announce that on January 29, 2025, the Angelman syndrome community will have a unique opportunity to share our experiences on living with the condition, including our perspectives on treatments for our loved ones, with drug developers, clinicians, and FDA staff at a virtual externally-led patient-focused drug development (EL-PFDD) meeting. We need your direct involvement in this initiative. Please join our webinar on Tuesday, August 20 at 8:00pm ET. We plan to share more information on patient-focused drug development, the Hope in Action meeting format and goals, meeting logistics, and the opportunity to participate in a key community survey in October. Register here: https://buff.ly/4c8FyFk

🚴♂️🏰 The Castle to Castle Ride was a huge success! Cyclists journeyed between historic castles to raise awareness and funds for FAST UK. Thank you to everyone who participated and supported this amazing cause. Read the full story on our website: [https://lnkd.in/ddsUiAeN]. Every share and donation makes a difference! 🙏 #CastleToCastle #FASTUK #ThankYou #MakingADifference