Hi Cure,

It’s wonderful to see the global AS community coming together to prepare for International Angelman Day next week.

Make sure to keep an eye on our social media over the next eight days as we highlight Moments of Hope shared by community members like you!

If you have updates you would like to be included in next week’s newsletter, please email us at info@cureangelman.org.

This week we are going to focus on Pillar 4 – Accelerating and Preparing for Clinical Trials, the final Pillar in the Roadmap to a Cure 2.0. 

Pillar 4 is often overlooked but wildly important! 

This Pillar encompasses a wide range of work including:

• Creation of animal models and cell lines for each genotype
• Angelman Syndrome Biomarker and Outcome Measure Consortium (ABOM)
• Global Angelman Syndrome Registry (GASR)
• Natural History Study
• Newborn Screening
• Rush Pediatric Neuroscience F.A.S.T Center for Translational Research

Click here to learn more about each of these programs:

Due to the breadth of Pillar 4, we will spend the next couple weeks highlighting several talks from the FAST 2022 Global Science Summit that exemplified FAST funded projects focused on accelerating and preparing for clinical trials. 

In this week’s newsletter, we will feature Dr. Keung and his team’s talk from the 2022 FAST Global Science Summit on engineering human stem cell-derived platforms.

Their research is preclinical and focuses on the conception, characterization and maintenance of in-vitro models that is critical for expedited therapeutic development. One of their projects utilizes customizable human stem cells to study deletion, ICD and UPD genotypes. This approach is instrumental in generating shareable genotype-specific models quickly and investigating how the different genotypes or loss of genes outside of UBE3A contribute to AS. They are also producing human cerebral organoids which, unlike cells, form a 3-D tissue to observe neural development. Having a scalable, well-characterized organoid model will allow for high-throughput screening of therapeutics.   

For more information, watch the full talk here:

International Angelman Day (IAD) is about coming together as an AS community to spread awareness around the disorder impacting our loved ones.

In honor of IAD’s 10 year anniversary, the Angelman Network (the founders of IAD), FAST and Angelman Syndrome Foundation (ASF) came together to create a collaborative video for the Angelman community. FAST presented our Roadmap to a Cure 2.0 and the research grants we are funding in order to drive forward our mission of bringing transformative treatments to all individuals living with AS world-wide. ASF presented on all things communication, including AAC and sign language. 

Check out the video:

Thanks to everyone who has already shared their Moment of Hope! It’s so great to see all of these inspiring stories. Here are just a couple:

Read more stories and share your Moment of Hope (if you haven’t already) today on our website:

The Kowalski Family is hosting a wine tasting event on Friday, March 3rd in honor of their son, Bruce, who lives with AS. They have partnered with Charles Krug Winery, Napa's oldest winery estate, for an event where guests will enjoy three signature wines. 

This unique opportunity is open to the public!

Skating Angels invites the community to purchase the wine package, attend the virtual tasting if you are able, and don’t forget to order your engraved Skating Angels glassware.

Learn more and register today:

Next week, we’ll share even more ways to take action for IAD, and share another presentation around Pillar 4.

As always, please share this link with anyone who would be interested in receiving our updates.