Foundation Submits Public Comment to the FDA on the Plausible Mechanism Framework for Accelerating Individualized Therapy Development for Rare Diseases
On behalf of the APBD community, the APBD Research Foundation has responded to the US Food and Drug Administration's (FDA) request for public comments for its recently released draft guidance for the use of the Plausible Mechanism Framework for individualized genetic therapies.
Advancing APBD Research Has Never Been More Urgent or More Promising
We are excited to launch the 2026 APBD Tour de Friends Rally for Research Fundraising Campaign to raise $150,000.
We Need You for the APBDRF Drug Repurposing Study!
The APBD Research Foundation is excited to announce an opportunity for you to play a direct role in advancing treatment research. You do not have to leave home to participate.
Carol Rosenstock Joins the APBD Research Foundation’s Board of Directors
The APBD Research Foundation is delighted to announce the appointment of Carol Rosenstock to its Board of Directors.
Developing a "Disease Concept Model" for APBD -- a Collaborative Research Initiative
The APBD Research Foundation is excited to partner with COMBINEDBrain on the development of a “Disease Concept Model” for APBD and other neuromuscular forms of GSD IV.
APBD Research Foundation 2025 Rally for Research Grant Series: UCLA Scientists Awarded Pilot Grant to Discover New APBD Biomarkers
The APBD Research Foundation is pleased to announce the first of our 2025 Rally for Research Pilot Grant Program grant recipients: Gal Bitan, PhD and Brent Fogel, MD, PhD.
n-Lorem Foundation ASO for the Deep Intronic Mutation Causing APBD Receives FDA Approval for n-of-1 Clinical Trials
The APBD Research Foundation is excited to share with our community that the n-Lorem Foundation has received FDA approval to proceed with n-of-1 clinical trials for their treatment targeting the APBD deep intronic mutation.
We’re Expanding Our APBDRF BioBank
The APBD Research Foundation is excited to announce its 2026 goal of recruiting 30 participants to its GSD IV BioBank!
APBD Research Foundation Mourns the Passing of Former Board Member and Director Emeritus David Epstein
New York, NY – The APBD Research Foundation shares with sadness the passing of former Board Member and Director Emeritus David Epstein on January 3, 2026.
Rare Genomes Project Researchers Update the Global Genetic Prevalence of GBE1-related Diseases to 34,000
The estimated global genetic prevalence of GBE1-related diseases — APBD and early-onset forms of Glycogen Storage Disease Type IV included — has been updated from 1 in 325,000 (reported in 2022) to 1/236,000. This updated estimate suggests that up to 34,000 people worldwide could be affected.
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 1 of 10 recipients of the Oxford-Harrington Rare Disease Centre’s 2025 Rare Disease Scholar Awards.
Foundation Partners with COMBINEDBrain to Launch APBDRF BioBank
The APBD Research Foundation is excited to announce the launch of the GSD IV BioBank in partnership with COMBINEDBrain.
Why You Should Get a CRID - Clinical Research ID?
As the APBD Research Foundation and our research community embark on new and continued research studies to find cures for and advance our understanding of APBD, we strongly encourage our patient community to create a Clinical Research ID (CRID).
Foundation Attends n-Lorem Foundation’s Third Annual Nano-rare Patient Colloquium
Nano-rare disease advocates, clinicians, researchers, and industry collaborators gathered in Cambridge (MA) earlier this month for the n-Lorem Foundation’s 2025 Nano-rare Patient Colloquium.
Foundation’s Executive Director Represents the APBD Community at NORD’s 2025 Breakthrough Summit
Over 900 rare disease advocates, clinicians, researchers, industry partners, and other leaders gathered earlier this month in Washington, DC for the National Organization for Rare Disease’s (NORD) 2025 Breakthrough Summit.
Participate in the Living Rare Study: Share Your Experience, Help Shape the Future
The National Organization for Rare Disorders (NORD) is launching the Living Rare Study, and we need you and everyone in the GSD IV community to participate.
Carol Rosenstock Shares Her APBD Journey with the Jewish Standard
Carol Rosenstock recently opened up about her journey from being diagnosed with MS to receiving an APBD diagnosis in the Jewish Standard.
Foundation on the Road: Lindsay Gill, PhD, Foundation’s Research Manager, Attends COMBINEDBrain’s 2025 Clinical Readiness Day and Annual Summit
There are many challenges for small, scattered rare disease communities like ours. To address some of those challenges, the APBD Research Foundation recently became a member of the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain).
The APBD Research Foundation Mourns the Passing of Co-Founder Michael Weiss
New York, NY – The APBD Research Foundation shares with deep regret the passing of our co-founder Michael Weiss on September 6, 2025 from the consequences of APBD.