Foundation for Angelman Syndrome Therapeutics

Submit a photo today of your loved one living with Angelman syndrome for a chance to be featured on our social media in the coming weeks and months! We are looking for moments highlighting ‘AS in action’ - including walking with a gait trainer, eating with a spoon, laughing, swimming, or at a therapy! ?? Submit your photo: https://buff.ly/Sv1xrbT

?? The Cure Angelman Network (CAN) is filled with dedicated supporters of our mission to bring a promising therapeutic to reality for individuals living with AS worldwide. We appreciate everyone who is doing their part to help! ?? This month, we want to spotlight Matthew Gocker, resident of a small town in Wisconsin, for his recent efforts to raise money to benefit FAST in honor of Payslie, who lives in the next town over. He’s a family friend who goes above and beyond! ?? Read more and check out photos: https://buff.ly/bjJB7vA

??? Today marks our 2nd Annual AS Congressional Advocacy Day, where passionate advocates take to Capitol Hill to meet with congressional leaders. ?? Through personal stories and a united voice, we are driving meaningful conversations and making specific legislative requests to ensure Angelman syndrome remains a priority in the U.S. Congress. Our 2025 priorities include: Protecting Medicaid, Credit for Caring Act tax benefit, and supporting AS-specific focus and funding by federal agencies. ?? We urge families, friends, researchers, and clinicians to amplify our voices by reaching out to your congressional leaders in support of the in-person advocacy happening right now on Capitol Hill! ? We’ve made it simple—with just a few clicks, you can send a powerful message to ensure Angelman syndrome remains a priority in Congress. Every email makes a difference! ?? Click here to take action: https://buff.ly/CzOAkBI

Happy Rare Disease Day - We are excited to share Global Genes' latest white paper on clinical trial feasibility studies in rare diseases! Traditional methods often fall short in these unique populations, but our research – with contributions from Amanda Moore, Ryan Fischer, and Terry Jo Bichell – shows that engaging patient advocacy organizations early and often can improve feasibility, boost success rates, and reduce both time and cost in drug development. Read the paper: https://buff.ly/4h3mN8u

?? Rare Disease Day Reminder: Be Counted in the Global Angelman Syndrome Registry! ???? Angelman syndrome is a rare disease, and by being part of the Global Angelman Syndrome Registry, you help bring our global community together, strengthen advocacy efforts, and improve our understanding of prevalence and characteristics. When the Registry launched in 2016, genotype information (e.g., deletion, mutation) wasn’t mandatory, meaning some records lack a confirmed diagnosis. Checking yours is easy! ? Simply log in—your loved one's diagnostic result appears in the top left. If it’s blank, click "Update Diagnostic Information" in the same panel. If you're not yet registered, it’s harder for us to advocate for our entire community. Be counted—your participation matters! ???? (*FAST cannot access personal details; only Registry curators can view data.) Register today: https://buff.ly/3EkKI2e #RareDiseaseDay #AngelmanSyndrome #BeCounted #GlobalRegistry

From a FAST funded grant to Dr. Albert Keung’s lab, a recent publication was released that presents a tool that is fast, sensitive, cost-effective, and can detect even very small amounts of UBE3A protein. ?? This is incredible work under Pillar 4 of our Roadmap to a Cure to help with potential biomarkers and the monitoring of therapeutics in clinical trials. Learn more: https://buff.ly/4brBr8E

The Externally-Led Patient-Focused Drug Development (EL-PFDD) meeting for Angelman syndrome has been rescheduled to Monday, April 7, 2025 at 10AM EST. We are thrilled to have a new date and the opportunity for key decision-makers to hear our community's voice about the lived experience of our families and what matters most concerning emerging potential therapies. ?If you already RSVP’d for the event, there is no need to do so again! ??If you have not RSVP’d, please click here: https://buff.ly/4kd20ST RSVP-ing you can add this event to your calendar and will be sent reminders leading up to the day. On April 7, you will simply go to angelmanadvocates.org to join the live meeting. We look forward to gathering the community in April for this historic virtual event! Learn about the EL-PFDD meeting: https://buff.ly/3NTVEcg

?? Dr. Allyson Berent, CSO for FAST, was invited to speak at the Bio-Neuroscience Meeting in Amsterdam which is a partnering and investment summit for global leaders in CNS neuroscience drug discovery and development. This opportunity is allowing the work by FAST and AS2Bio to be showcased as an example of how to develop drugs for rare neurogenetic indications in the most novel and unique way, through true patient focused drug development. Learn more: https://buff.ly/3QET62M

Calling all rare disease community members – patients, caregivers, clinicians, researchers, and advocates to join a petition to Congress in honor of Rare Disease Week 2025. On behalf of our nation’s rare disease community, the petition urges Congress to continue their support of steady and robust federal agency leadership, federal biomedical research funding, and public health agency resources. The petition is being led by the EveryLife Foundation. How to participate? ?? Click here: https://buff.ly/41tMx9F and add your signature (first and last name) before Thursday, February 27 at 5 PM ET. - Your first and last name will appear on the letter that is sent to Congress. Public versions of the letter will only include the total number of signatories (not individual names). Then – please encourage your family and friends to join! Please note that this petition is for individuals, so please share across your organizations and communities so that we can demonstrate the power and strength of our community. THANK YOU for helping us to demonstrate the collective strength of our rare disease community! Learn more: https://buff.ly/3EQhufn

?? In the spirit of Rare Disease Week, we are excited to launch our new video series, with short high-level animations breaking down each genotype of Angelman syndrome. ?? Knowing the genotype of your loved one living with AS is important – for understanding certain behaviors and characteristics, family planning, and eligibility for participating in research and clinical trials. ?? Watch Videos: https://buff.ly/4i5IlCw