Happy Holidays

Editor's Note: This artwork was created by Jennifer Rosky, a patient in our community. Our thanks to the Rosky family for sharing it with us.

JUST IN – Second Match Challenge to Boost Our Year-End Fundraising Campaign

We’re thrilled to announce that a community member has generously offered a new $30,000 gift matching opportunity to boost our 2025 Year-End Giving Campaign! 



As we close out the year, we're working toward a $200,000 year-end fundraising goal to sustain our mission and continue driving progress for individuals and families affected by APBD.

We acknowledge that behind every breakthrough, are patients and families that stand with us, persevere with us, and work with us. Please help us finish 2025 strong.

P.S.: If you've already made a year-end donation, thank you!



Your generosity sustains the Foundation’s work and changes lives by bringing hope, momentum, and progress to the APBD community. 

New Preprint Updates the Global Genetic Prevalence of GSD IV to 34,000

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The APBD Research Foundation is excited to share that the findings from our "GSD IV Global Genetic Prevalence Study" have been published as a preprint. 

The findings of the monumental study significantly updated the estimate of individuals affected by diseases caused by changes on the GBE1 gene (known as Glycogen Storage Disease IV), from 1 in 325,000 to 1 in 236,000. It indicates that there are ~34,000 people in the world with GSD IV.

With support from the Chan Zuckerberg Initiative (recently rebranded as the Biohub) and with the help of our academic research partners, we now have this important tool to assess the global burden of these diseases, inform public health and rare disease policy, and improve the care of individuals and families impacted. Our thanks to the following:

- Samantha Baxter, MS, LGC and Moriel Singer-Berk, MS (Rare Genomes Project at the Broad Institute of MIT and Harvard)

- Orhan Akman, PhD (APBDRF's Scientific and Medical Advisory Board Member)

- Rebecca Koch, PhD, RDN (Duke University)

- Qing Lu, PhD (University of Florida)

- Jennifer Orthmann-Murphy, MD, PhD (University of Pennsylvania)

Matthew Gentry, PhD Receives Oxford-Harrington Rare Disease Centre’s 2025 Rare Disease Scholar Award to Advance Enzyme Therapy for Neurological Glycogen Storage Diseases

The APBD Research Foundation is excited to share that Matthew Gentry, PhD -- a member of our Scientific and Medical Advisory Board -- has been selected as one of ten recipients of the Oxford-Harrington Rare Disease Centre’s 2025 Rare Disease Scholar Awards. 

Dr. Gentry is a Professor and Chair of Biochemistry & Molecular Biology in the College of Medicine at the University of Florida. He is a prominent brain metabolism scientist who has made groundbreaking discoveries in the realm of brain glycogen and glucose metabolism and how changes in these pathways impact neurological diseases. Dr. Gentry’s lab works on rare neurological glycogen storage disorders, as well as the role of glycogen in more common neurodegenerative diseases and cancers.

As a Rare Disease Scholar Award recipient, Dr. Gentry is receiving $100,000 to support his research aimed at advancing a promising laboratory-developed enzyme therapy that crosses the blood brain barrier, penetrates cells, and degrades polyglucosan bodies. By receiving this award, he will also have access to additional advisory support and acceleration funds, and qualify for investment funds up to $1,000,000.

In Memory of Those We Lost in 2025

It is with heavy hearts that we remember the individuals in our community who passed away this year. We honor their courage and their strength. Our thoughts are with their family members and friends.

Take Our BioBank Interest Survey!

In November, the APBDRF announced the launch of our “GSD IV BioBank,” an exciting new research program aimed at accelerating the identification of biomarkers and drug development efforts. NOW, we are looking for patients interested in providing biosamples as we build out this scientific tool. Take our survey to show your interest in scheduling a convenient home visit to collect your biosamples and support your GSD IV community!

Take the interest survey

Take 5 Minutes to Create Your Clinical Research ID!

The APBDRF is encouraging all members of our community to create a CRID (Clinical Research ID). A CRID acts as a secure, unique code that researchers can use to link your data across potential research studies while keeping your identity private. 

Learn how to sign up

Upcoming Events

The Foundation hosts talks, workshops, and scientific meetings for patients, caregivers, health professionals, and researchers. These programs connect our community members and deepen the understanding of how APBD impacts lives.

Patient Chat

Jan. 28, 2026 | 9am PT | Noon ET 

Feb. 25, 2026 | 9am PT | Noon ET

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

Caregiver / Family Chat

Jan. 8, 2026 | 9:30am PT | 12:30pm ET

Feb. 12, 2026 | 4:30pm PT | 7:30pm ET

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

Make a Tax-Free Gift Through Your IRA

info@apbdrf.org | 646.580.5610 | apbdrf.org

Make your charitable gift to "APBD Research Foundation" and mail it to:

Sharon Steinberg

Attn.: APBD Research Foundation

526 E. 20th Street, #1D, New York, NY 10009