Hi Cure,

We’ve now stepped into the fall, and it’s a great time to reflect and prepare for the holiday season’s gatherings… including our Gala in December! 🍂

This week is the start of our FAST Global Highlights, and we’re excited to share what our affiliates around the world have been working on to support a cure for Angelman syndrome. Read on to hear about one specific global chapter that’s seeing their weather get warmer right now… 🍃

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

What an inspiration for all of us! Angelman syndrome is next! PTC Therapeutics recently announced the approval of a novel gene therapy for an ultra-rare condition known as AADC — the first approved gene therapy with an intracranial delivery (directly into the brain tissue). This huge milestone will help so many neurogenetic disorders, particularly Angelman syndrome.

Many companies and academics are working on numerous different gene replacement strategies for AS. The first team to publish this incredible work in 2011 was led by Dr. Ed Weeber at the University of South Florida; he is now supporting the Angelman program at PTC. This program was robustly funded by FAST for over $1M through the FAST FIRE team until 2019. After this time Dr. Weeber left USF to take a position at PTC Therapeutics and continues to remain involved in this Angelman syndrome program. This incredible work led to PTC acquiring the license to advance this technology into human patients. It’s such an exciting time for AS, and really highlights how FAST’s willingness to push programs forward in a big way has repeatedly made them attractive to industry, which is what leads to great progress. We are writing our own future to ensure Angelman syndrome is the low-hanging fruit for any company interested in monogenetic disorders. PTC, we are so proud of what you have done for so many patients, and are so much looking forward to what you will do for Angelman syndrome next!

Click here to read more about this milestone >>

Dr. Brett Abrahams is a geneticist turned drug hunter building early-stage neuro-focused startups. He led R&D activities at Magnolia Neurosciences, a Series A funded company developing small molecule therapeutics for neurodegenerative disorders, since its formation in 2018. He joined Magnolia from Ovid Therapeutics (NASDAQ: OVID) where he was Senior Director and Head, Pre-Clinical Biology, and involved in their Angelman syndrome program. Before this, Dr Abrahams was full-time faculty at the Albert Einstein College of Medicine, where he retains an adjunct appointment. His research, published in numerous high impact journals including Cell, New England Journal of Medicine, Nature, and Science Translational Medicine, has been cited more than 10,000 times.

Click here to meet the entire Scientific Advisory Board:

Dan Growden is the parent of 5 year old Sawyer Grace, who lives with AS. He has created a challenge called the 15/1965 Bike Ride to help raise money and awareness for FAST. The number 15 signifies the chromosome that AS affects, and 1965 is the year that AS was first documented by Dr. Harry Angelman. He’ll be riding a total of 1965km in 15 days which equals 131km (81.3 miles) a day!

He hopes this will also inspire parents/caregivers to lean into whatever their discomfort may be and to take small steps to make their days a bit better.

Click to read more about this amazing parent:

You can follow Dan’s progress on our FAST Athletes page once he starts the challenge on October 15th!

In 2008, a group of parents of young and newly diagnosed children with Angelman syndrome came together informally to discuss joining the global search for a cure after FAST United States was founded. They decided to formalize the Australian chapter in 2010, led by Chairperson Meagan Cross. Their agenda included addressing delays in diagnosis and underdiagnosis of the condition in Australia, as well as disparities in the standard of care across the country. Currently, their top strategic priorities are owning and iterating on the Global Angelman Syndrome Registry, the Australian Angelman Clinic network and virtual centre of excellence, and readiness for therapeutics. 

Click here to read more about FAST Australia:

Thinking about Christmas shopping or need some new household items? Check out Amazon Prime Day today and tomorrow for early access to hot Black Friday deals.

Shop from smile.amazon.com and choose Foundation for Angelman Syndrome Therapeutics for your charity for an easy way to support FAST’s mission to cure Angelman syndrome.

The AmazonSmile Foundation will donate 0.5% of the purchase price from your eligible AmazonSmile purchases to the eligible charitable organization of your choice. The purchase price for each item is the sale price, excluding shipping, handling, gift-wrapping fees, taxes, and service charges, and less any rebates, returns, and bad debt.

Click here to support FAST while shopping on AmazonSmile:

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