Foundation For Angelman Syndrome Therapeutics

This experiment was designed to identify translational, neurophysiological outcome measures in a model of Angelman syndrome. For the first time, researchers rep...ort neurophysiological phenotypes collected via translational methods. This is also the first report of reduced sleep spindles, a critical marker of memory consolidation during sleep. Their results are useful outcomes for therapeutic testing. https://pubmed.ncbi.nlm.nih.gov/33549123/

FAST Funded Research IAD Highlight #1: FAST is exploring two novel Gene Replacement Therapy approaches for AS, AAV and HSC Lentivirus. HSC Lentivirus ($508,101)... AAV ($1,492,200). For more information, check out the blog post here: https://bit.ly/3tu4n9C, here:https://cureangelman.org/research-og/penn-team and here: https://cureangelman.org/part-ii-crispr-for-angelman-syndro See more

FAST Funded Research IAD Highlight #2: In 2017, FAST launched a subsidiary company called GeneTx Biotherapeutics to develop an investigational Antisense Oligonu...cleotide (ASO), GTX-102, for human application. This is a paternal gene activation strategy to activate the missing gene in AS called UBE3A. For more information, check out the blog post here: https://cureangelman.org/about-genetx See more

Your donor dollars at work! The complete deletion of ubiquitin protein ligase E3A (Ube3a), which is an established cause of AS, results in age-dependent incre...ased delta power, epileptiform activity, and altered seizure threshold in the AS rat model. Use of the rat model facilitates early developmental studies, including quantitative EEG analysis and hyperthermia-induced seizures. Our findings support use of the rat model for future pre-clinical studies targeting the development of new, more effective treatment options as well as use of the AS EEG phenotype as a quantitative and translatable biomarker. https://pubmed.ncbi.nlm.nih.gov/33531368/ See more

Exciting report from the lab of Drs. Ype Elgersma and Monica Sonzogni. They note, A particular promising strategy is an antisense oligonucleotide approach, w...hich activates the silenced paternal UBE3A gene. When successful, such treatments potentially offer a disease-modifying therapy for Angelman syndrome and several other neurodevelopmental disorders. https://onlinelibrary.wiley.com/doi/epdf/10.1111/dmcn.14831 See more

New year, new CAN! Have you created your 2021 CAN Page? Cure Angelman Now (CAN), our global community fundraising campaign, is NOW OPEN at: https://sna.etapestry.com/.../Foundationfo.../canadacan2021/... Foundation for Angelman Syndrome Therapeutics has gone global, and FAST Canada is excited to announce that we are joining with our fellow FAST organizations around the world to Cure Angelman Now. By starting a Canadian fundraising page, you will join us alongside the largest non-governmental funder of Angelman-specific research in the quest to support groundbreaking research and therapeutic programs. Together, we can and will CURE Angelman syndrome. Please join us - start your own page and be a part of the Canadian effort in a global initiative to bring therapeutics to people living with Angelman syndrome. If you have any questions or need any help creating your own personal fundraising page, please contact: [email protected] STAY TUNED FOR OUR LIST OF AMAZING PRIZES/INCENTIVES FOR JOINING IN THE FIGHT TO CURE ANGELMAN SYNDROME! #CAN2021 #FASTCAN #CureAngelmanNow #AngelmanSyndrome #KickingAS