We're thrilled to share an update from Ultragenyx regarding reported positive interim data from the ongoing Phase 1/2 study in patients living with deletion genotype Angelman syndrome after treatment with investigational GTX-102. 

It is with great pleasure that we welcome Niki Armstrong, FAST’s new Vice President of Genetic Services and Education. 

Having worked with Niki for years, I know she will be an excellent addition to our team, bringing tremendous value to our organization and the AS community. In her new role, Niki will oversee FAST's genetic services, data strategy, and communications related to AS genetics and clinical trials. As a Certified Genetic Counselor, Niki can directly provide families with genetic services and education, addressing questions related to clinical trials and AS genetics. In addition, Niki will join Megan Tones in Australia and serve as the US based curator for the Global Angelman Syndrome Registry (GASR) and contribute to public-facing science writing.

Niki's extensive experience in newborn screening makes her an invaluable asset to our science-based organization. It is critical we drive therapeutics from the bench to the bedside - and from diagnosis through drug delivery.

Niki will also collaborate with the ASF and LADDER to lead projects that put data into action, further advancing our understanding of Angelman syndrome for research and drug development.

We recognize the importance of having someone like Niki to help families navigate the complexities of an AS diagnosis and clinical trial decision-making. We are confident that her expertise and experience will greatly benefit the AS community and FAST.

Please help me welcome Niki to our community!

- Ryan Fischer, COO of FAST

Niki is available to meet with families 1:1. 

To learn more about scheduling with her, click here:

Before we can cure Angelman syndrome, we have to be able to diagnose it! Understanding the early signs and characteristics and each family's journey to get to a diagnosis is extremely valuable. Researchers use this insight to understand how potential therapies could help young children living with AS and to direct initiatives to improve diagnosis of AS in the future.

If your diagnosis information is not already in the Global Angelman Syndrome Registry, we ask that you enter it for our curators to analyze and share with critical stakeholders.

Simply go to the History of Diagnosis and Results module, make sure the module is complete, and upload your genetic confirmation.

(Trouble logging in? Email curator@angelmanregistry.info)

The diagnostic journey to Angelman syndrome can take many different paths. No matter the path, FAST is at the end of that journey – to help newly diagnosed families start navigating and understand the world of Angelman syndrome. 

We are here to connect with families to offer support, hope, and education on how to make informed decisions for their loved one.

On February 29, the ASF and FAST joined forces with 104 other organizations to send a letter to Senators Michael Bennet (D-CO) and Shelley Moore Capito (R-WV), as well as Representatives Mike Carey (R-OH) and Linda Sánchez (D-CA). The purpose of the letter was to express our support for the bipartisan Credit for Caring Act.



This act proposes the establishment of a non-refundable tax credit of up to $5,000. The aim of this tax credit is to assist working families and alleviate the significant financial burden associated with caregiving, which amounts to over $600 billion in unpaid labor annually.

This act is vital to the Angelman community as it offers crucial financial support to caregivers, aiming to alleviate the substantial economic strain they face while providing care for individuals with Angelman syndrome.

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