July 2021 Newsletter
In this newsletter, you will read about our partnership with the Rare Genomes Project to improve our understanding of the prevalence of GBE1-related diseases -- including APBD -- around the world.

You will also read about Elliott Weiss, my grandnephew, who chose to host a fundraiser benefiting the APBD Research Foundation for his bar mitzvah last year. Wait till you see how much he raised! Elliott's grandfather and I both have APBD, and Elliott knows how important it is to find treatments and a cure for APBD. I'm in awe of this young man and his passion! 

In the coming months, we look forward to sharing details about the APBD Patient Listening Session with the FDA (happening this fall), the development of APBD healthcare guidelines in collaboration with the Association for Glycogen Storage Disease, and much more. Stay tuned!

On behalf of our Board of Directors and Staff team, thank you for supporting our work.

Best wishes,

Emil Weiss
We recently applied for and were selected to partner with the Rare Genomes Project on a study to calculate disease prevalence.

The global, pan-ethnic prevalence of glycogen branching enzyme (GBE1)-related diseases, including APBD, is currently unknown and will be a focus of the study, which will be completed in 2022. The goal of the study is to improve our understanding of how common GBE1-related diseases are. The study will curate a list of GBE1 mutations that cause (or are expected to cause) disease, and will use genomic and population data to estimate prevalence.

This prevalence study will build on prior work that estimates the prevalence of APBD at potentially 3,400 Ashkenazi Jews over 50 years of age in the US. Read more...
Upcoming Events
From Chat events to workshops and scientific symposiums, the Foundation hosts programs for patients, caregivers, and health professionals in an effort to build community and collaboration.

Our upcoming events include:
Caregiver/ Family Chat
  • Aug.12, 2021, 7:30pm ET | 4:30pm PT
  • Sept. 9, 2021, 7:30pm ET | 4:30pm PT

Patient Chat
  • July 28, 2021, 8pm ET | 5pm PT
  • Aug. 25, 2021, 8pm ET | 5pm PT
  • Sept. 22, 2021, 8pm ET | 5pm PT ("Bladder Issues and APBD" Q&A with Dr. Melissa Reigle)

 To learn more about these events and to participate, email us at info@apbdrf.org
In anticipation of his bar mitzvah last November, Elliott Weiss hosted a biking event called, Double Chai 4 a Cure, to raise awareness of — and fundraise for — the APBD Research Foundation’s work on behalf of people suffering with APBD.

Elliott shared, "This disease affects so many of my family members, including my grandfather, Zeidy Michael. I knew I wanted to incorporate a fun activity and personalize the fundraiser. We came up with the idea to bike through NYC’s famous Central Park. The bike loop in Central Park is about 6 miles, so 6 loops is 36 miles. That seemed like the right number for us, since it would be a challenge, but something we could do."

Working together with his family, friends, and classmates, Elliott raised over $22,000 to support the cause that is near to his heart. Read more...
On June 12, our Foundation had a record-breaking 89 enthusiastic and imaginative virtual riders join our Tour de Friends team for the University of Pennsylvania’s Million Dollar Bike Ride (MDBR) for rare disease research.

By the time our cyclists crossed the finish line, we had raised over $35,200. The next day, we were awarded $30,000 in matching funds from UPenn and $30,000 more from generous community members who joined forces to match the UPenn award. 

This means APBD research in 2022 will go forward with at least $96,200.  

There's still time through July 31, 2021 to help us get to our goal.

If you have already donated, we THANK YOU! Please consider an additional gift to help us award $100,000 in research grants in 2021.

Do you wonder what the funds raised in 2020 make possible? They were awarded to UT Southwestern scientist, Felix Nitschke, PhD, who is developing a novel therapeutic approach called “cross-correction-enabled amylase” for APBD. Dr. Nitschke and his team are also working on developing a better molecular level understanding of APBD and other conditions (such as Lafora disease) where insoluble glycogen accumulates and has severe neuropathological consequences.