Foundation Hosts Focus Group, Bringing APBD and GSD IV Communities Together for the First Time

On May 6, 2024, the APBD Research Foundation hosted a virtual Focus Group that brought together, for the first time, over 50 participants representing the APBD and Glycogen Storage Disease Type IV (GSD IV) communities. The participants included patients, family members, patient advocacy organization leaders, clinicians, and researchers from 13 countries.  


APBD and GSD IV are caused by mutations on the GBE1 gene, linking these two rare disease communities. A recently completed study by the Broad Institute of MIT and Harvard estimates the global genetic prevalence of all GBE1 diseases, including APBD and GSD IV, at 26,000. To advance therapeutic development, we believe it is imperative to build bridges between the APBD and GSD IV communities. Read more


You can watch the recordings from researchers who spoke at the Focus Group here. Very shortly, we will share our Summary Report that sheds light on the needs of the GSD IV community, highlights best practices from both GSD IV and APBD families and representatives, and identifies priority areas of possible near-term and future collaborations, with a goal of mutually beneficial therapeutic development.

Only a Few Days Left: You Can Help Us Advance APBD Research!

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You can also join us, either virtually or in person, on June 8. Click here to register.


Your support for this annual event is crucial to advance APBD research. Let's continue pressing on to develop treatments and cures.

Research Highlight

Understanding Polyglucosan Body Formation in APBD, Lafora Disease, and RBCK1-Deficiency Disease


Researchers from the University of Texas Southwestern Medical Center (UT Southwestern) and the University of Tokyo recently published an article describing the mechanistic pathways of APBD, Lafora Disease (LD), and RBCK1-Deficiency disease (RD). All three are glycogen storage disorders (GSDs). The study, published in the journal Acta Neuropathologica, presents novel biochemical and pathological firsts that enhance our understanding of APBD and inform efforts to develop effective therapies for this devastating disease. Read more


Editor’s Note: "Research Highlight" is an ongoing feature in our newsletter. It is focused on scientific publications of interest to our community. Our thanks to Dr. Sharmista Mitra for sharing her research with us!

MISSED IT? Watch Harrison Jones, PhD, Duke University School of Medicine, present “Swallowing & Speech Disorders in APBD”

If you missed April’s Patient Chat, you can watch the recording of our guest speaker, Harrison Jones, PhD from the Duke University School of Medicine. Dr. Jones discusses how swallowing and speech dysfunctions can be addressed.

Watch Harrison Jones, PhD

You can also watch recordings of previous Chats here.

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 Foundation leaders, and the chance to raise funds for APBD research. 

Caregiver / Family Chat

June 13, 2024 7:30pm ET | 4:30pm PT

July 11, 2024 7:30pm ET | 4:30pm PT


This Chat is hosted by volunteer moderator Linda Cedarbaum. To learn more and register for this event, email Linda at linda@apbdrf.org.

Patient Chat

June 26, 2024 8pm ET | 5pm PT

July 24, 2024 8pm ET | 5pm PT


This Chat is hosted by volunteer moderator Harriet Saxe. To learn more and register for this event, email Harriet at harriet@apbdrf.org.

Photo of the Month! Rare Advocates Gather for Global Genes’ Rare Drug Development Symposium in Philadelphia

The APBD Research Foundation joined hundreds of rare disease advocates for the Rare Drug Development Symposium -- hosted by Global Genes and UPenn’s Orphan Disease Center -- in Philadelphia on April 29-May 1. 


The Symposium featured talks and panels that addressed the challenges and opportunities in rare disease research and drug development, break-out meetings, and a poster session we used to disseminate our APBD / GSD IV Clinical Practice Guideline.


Natacha Pires, the Foundation’s Executive Director, attended the Symposium and shared, “It was my first time attending, thanks to the travel stipend I received from Global Genes. I was honored to represent the APBD community and participate with rare disease peers in collaborative learning.” 

Global Genes and UPenn’s Orphan Disease Center developed a Rare Research Roadmap handout, detailing the journey we and other rare advocates are on as we pursue much-needed therapies.

We provide this FREE monthly newsletter resource to all of our community members.

This program is made possible by contributions to the APBD Research Foundation from donors like you.

Thank You! Text Link

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