I am so happy to welcome Ellen Koekoeckx as FAST's new global advisor, responsible for our worldwide network and strategy. With more than a decade of expertise in the pharmaceutical sector, during which she has effectively introduced multiple drugs to the market, Ellen possesses a very impressive understanding of the entire drug lifecycle — from initial development through regulatory approval to securing reimbursement. She also happens to be one of us — mother to daughter Hazel, 5, who lives with Angelman syndrome. We are thrilled to have her aboard.

– Alana

Learn more about Ellen:

Angelman syndrome results from the loss of a functional copy of the maternal UBE3A gene. In the case of large deletions, which account for the majority of all individuals living with AS (~70%), not only is UBE3A deleted but an additional 10 or so genes are also deleted in the surrounding  15q11-13 region. The new FAST-TRAC Grant presents a distinctive opportunity to advance a potential therapy that can target these other genes beyond UBE3A. Knowing that the deletion genotype of AS has been shown to have an increase in symptom severity compared to the non-deletion genotypes, this platform, called CRISPR activation (CRISPRa), has the potential to increase expression of these additional genes and close this gap between deletion and non-deletion.

Learn more about this grant:

The Advanced Therapies Awards recognize and celebrate progress in the advanced therapies field. We are honored to be nominated for the non-profit Patient Advocacy Award among a high-class group! The winners will be announced on January 18th, 2024.

Learn more about the Awards:

Spread Your Wings, a United Kingdom (UK) charity created by Alex & Jenny Vainella (parents to Leo who lives with Angelman syndrome) and friend Clare Hegarty, celebrated their launch gala this past weekend in London. 

“We initially decided to do a Gala as a fundraiser to launch our new charity, but what we got from it was so much more than money. Through speeches and videos, we exposed our life at the most vulnerable of times, which was incredibly hard to do. By doing so, it feels like we have brought everyone closer into our lives. The impact it has had is completely overwhelming and the love in that room was palpable. I know it will carry Alex and I through the challenges ahead.”

– Jenny Vainella

Thank you Jenny, Alex & Clare and all of Spread Your Wings for your dedication to Angelman syndrome and the FAST mission!

Read more about this event:

We’ve made extraordinary advances in the pursuit of developing meaningful therapeutics for Angelman syndrome. However, there is still much work to be done and research to fund.

Don’t forget to make your year-end gift to FAST to support our Roadmap to a Cure!

Give now to FAST:

ASF and FAST are proud to be among over 160 patient advocacy organizations urging Congress to consider two technical corrections to address the unintended consequences of the orphan drug exemption of the Inflation Reduction Act (IRA) that will help preserve hope and protect critical rare disease therapy development incentives. ASF and FAST are members of the EveryLife Foundations for Rare Diseases Community Congress. 

Read more about this important advocacy:

Thanks for reading, and please share this email with anyone in your network who would be interested in receiving our updates.