Hi Cure,

This week we’re diving into more information about Pillar 1 of our Roadmap to a Cure 2.0!

Multiple programs are in the pipeline, and 2023 will be a huge year for Angelman syndrome research.

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

As mentioned in last week’s newsletter, we want to highlight how some of the ongoing research fits into each of FAST’s 4 Pillars in the Roadmap to a Cure 2.0, starting with Pillar 1 — Fix Mom’s Gene. This Pillar encompasses all work being done to address deficits due to a lack of a functional maternal UBE3A copy in the brain, and this week we feature some of the incredible work presented by Dr. James Wilson at the 2022 FAST Science Summit that falls within this Pillar.

“The science of gene therapy couldn’t, and hasn’t, been any better than it is now,” Dr. Wilson stated, at the start of his talk. “We continue to make incredible progress in the technical and clinical development of gene therapy.” There are currently over 2,000 active gene therapy clinical trials (clinicaltrials.gov), promising cutting-edge genetic technologies and a far better understanding of vector delivery methods, making the reality of an Angelman syndrome gene therapy that much closer. 

Click here to read more about Dr. Wilson's research and watch his presentation from the Science Summit:

Pillar 1 of the FAST Roadmap to a Cure 2.0 consists of therapeutic programs that focus on “fixing mom’s gene” by replacing the missing or non-functional UBE3A gene in neurons of individuals living with AS.

Currently, we have 3 programs in the pipeline under Pillar 1:

• Adeno-Associated Virus Gene Therapy (AAV-GT)
• Hematopoietic Stem Cell Gene Therapy using a Lentiviral Vector (HSC-GT)
• Enzyme Replacement Therapy (ERT)

Click here to learn more about each of these three programs:

We’d like to introduce you to Taylor, mother of Marlee who lives with Angelman syndrome, who resides with her family in Charlotte, NC. Taylor approached FAST after attending her first summit last year in Miami with a unique perspective on the weekend. We are so grateful for her to step up and want to take an active role in supporting FAST’s mission. 

Learn more about her story:

We are at 30% complete towards our goal of having 200 Caregiver Impact Surveys submitted by the Angelman community! Thank you and we still need more!

This is an easy, quick way to take action and support the mission of FAST.

The more surveys we have completed, the better data we have to help quantify all of the lost work hours, costs, and time spent caring for loved ones with Angelman syndrome. Remember, this will help put DATA in front of payers to make sure they can’t ignore these costs. 

In case you missed it, you can watch presenters at the summit talk about the importance of this work here.

The link below will take you to the survey in the Global Angelman Syndrome Registry. For now, this is only available to U.S. families – we are hoping to include more countries soon!

Participants will receive a free FAST Backpack 🎒(while supplies last)! After completing the survey, click here to request a backpack.

If you have any trouble getting into your Global Angelman Syndrome Registry account, please contact curator@angelmanregistry.info. Please remember to save your responses!

We are 29 days away from International Angelman Day (IAD) — on February 15th.

IAD is an opportunity to raise awareness of Angelman syndrome on a global scale! Two AS parents in New Zealand organized the inaugural IAD event on February 15, 2013 and engaged 31 Angelman syndrome organizations from around the world to join their efforts. Today, IAD has grown to over 50 AS organizations participating worldwide! 

February 15th is significant because February is Rare Disease Month and the 15th refers to the 15th chromosome, which is the chromosome impacted by Angelman syndrome.

The purpose of this day is to:

• Raise awareness worldwide of the condition;
• Mobilize people to action & encourage fundraising for the individual organization in their country;
• Promote research and educational resources in the organization’s own country; and
• Remember those people with Angelman syndrome who are no longer with us.  

FAST is curating fun ways for the community to participate in IAD day this year for its 10th anniversary so stay tuned!

Learn more:

Next week, we’ll share more information about Pillar 2 of our Roadmap to a Cure 2.0!

Don’t forget to share this link with anyone who would be interested in receiving our updates.