April 2022 Newsletter
Research Highlight: An Update on the Prevalence Study for Glycogen Branching Enzyme (GBE1)-Related Diseases

We are excited to share that the Rare Genomes Project at the Broad Institute of MIT and Harvard, has completed their disease prevalence study for glycogen branching enzyme (GBE1)-related diseases.

This study estimated – for the first time – the global, pan-ethnic prevalence of GBE1-related diseases, which includes APBD and earlier onset forms of glycogen storage disease type IV.

Check out a few of the study highlights in this infographic and be sure to register for our upcoming 2022 APBD Scientific & Community Conference to hear more about this study from the Rare Genomes Project team!
Riding for Research Dollars

Join our virtual APBD Tour de Friends Team as we cycle for the 7th time in the Million Dollar Bike Ride for rare disease research. 

How can you participate?

Go HERE to register for free as a virtual cyclist with the APBD Tour de Friends, and go HERE to donate to APBD research.

Every dollar raised will be MATCHED by Penn Medicine's Orphan Disease Center (ODC) up to $30,000, AND generous community supporters will match the ODC match -- provided your donation is made by May 15th. EVERY dollar you donate can generate $3.00 in research for APBD!

In addition, every registered virtual cyclist will go into a drawing to win THE GOLDEN HELMET! Yes, we are designing the boldest, most bedazzled, most bodacious bicycle helmet you have ever seen! You will definitely want to find a place in your trophy case or on your mantle for this spectacular piece of artwork. In addition, we will definitely want to see a selfie of YOU wearing this amazing prize!
Join us at the 2022
APBD Scientific & Community Conference

We are just one month away from the 2022 APBD Scientific & Community Conference. Have you registered yet?

This Conference will bring together researchers, health care providers, industry partners, and individuals and family members impacted by APBD to connect, share, and accelerate APBD and allied diseases research. We are thrilled to have over 30 speakers joining us for this two-day virtual Conference!
Upcoming Events
From Chat events to workshops and scientific symposiums, the Foundation hosts programs for patients, caregivers, and health professionals which connect our community members and deepen the understanding of how APBD impacts lives. 

These events offer peer support, opportunities to hear from health experts, and a chance to hear from Foundation leaders. Our upcoming events include:
Caregiver / Family Chat
May 12, 2022, 7:30pm ET | 4:30pm PT

This chat is hosted by volunteer moderator Linda Cedarbaum. We happily welcome new chat group participants! To learn more and register for this event, email Erin Stevens at erins@apbdrf.org

Patient Chat: Documenting Your APBD Experience -- Participate in an Observational Study
April 27, 2022, 8pm ET | 5pm PT

To be able to properly treat APBD, we have to have a complete understanding of how the disease develops and progresses. That is why the GBE Deficiency (GSD IV and APBD) Natural History Study was created. This observational study, managed by Dr. Rebecca Koch from Duke University, is designed to analyze medical records from people who have been diagnosed with APBD.

Be sure to join us on April 27, 8pm ET (5pm PT) to learn more about what this “natural history" study is and why it is important for APBD research. To register, click here...

To learn more about these events and to participate, email us at info@apbdrf.org
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