News Releases

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).

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.

We’re excited to share that Golden Heart Flower, Ltd. (GHF) has just launched a Phase I clinical trial in Europe to study GHF-201 in adult healthy volunteers.

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. 

The APBD Research Foundation is delighted to welcome Lindsay Gill, Ph.D. as Research Manager. Dr. Gill joins us following a ten-year career as a neuroscientist and neurotoxicologist with the National Institute for Occupational Safety and Health, a branch of the U.S. Centers for Disease Control and Prevention.

We are excited to announce that Amber Robertson’s powerful story about her daughter Mia’s GSD IV diagnosis has been published on KevinMD.com.

We are excited to share that a powerful narrative from Jeff Cooper, who was diagnosed with APBD in 2018 after several years of an MS misdiagnosis, has been published on KevinMD.com.

In the May 2025 newsletter, we highlight two powerful examples of momentum in research and advocacy. 

Due to the increased availability of genetic testing, including carrier screening, several members of our community have received a genetic, but presymptomatic, diagnosis of APBD.

We’re honored to feature a Q&A with Dr. Amy Williford, Executive Director of Communications and Donor Relations at the n-Lorem Foundation.

We’re excited to share that the APBD Research Foundation is now a proud member of the Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders (COMBINEDBrain). 

We recently wrapped up a powerful collaboration with Costello Medical — through the Pro Bono Call for Rare Disease Organizations — that supported the development of critical tools needed to unite the APBD and the broader GSD IV community.

We are excited to launch the 2025 APBD Tour de Friends Rally for Research Fundraising Campaign to raise $150,000.

The APBD Research Foundation is delighted to announce the appointment of Dr. Lawrence (Larry) Arky to its Board of Directors.

The APBD Research Foundation is excited to partner with UK-based Alex The Leukodystrophy Charity (Alex TLC) and Association for Glycogen Storage Disease – UK (AGSD-UK) on a special APBD Patient Chat that aims to engage the global community.

The APBD Research Foundation rallied its community to mark Rare Disease Day on February 28, joining the National Organization for Rare Disorders and rare disease advocates around the world.

We are excited to share the recently released Chan Zuckerberg Initiative (CZI) Rare As One Impact Report. The report highlights the accomplishments of our Foundation and 29 other Cycle One rare disease organizations over a three-year grant period that ended in 2022.

We are excited to share that Melanie Robinson’s narrative on caregiving for her mother, Ginny, who was diagnosed with APBD in 2018, has been published on KevinMD.com.

The APBD Research Foundation is pleased to share that Felix Nitschke, PhD (University of Texas Southwestern Medical Center) and Wyatt Yue, PhD (Newcastle University) are the recipients of rare disease research grants from the University of Pennsylvania’s Million Dollar Bike Ride (MDBR) program.

As an OB/GYN for the past 22 years, I have loved delivering babies, performing surgeries, and having long-term relationships with my patients. Now, I am on the other side of things, as a patient myself. I was diagnosed with adult polyglucosan body disease (APBD) in April of 2023 at the age of 59.

The APBD Research Foundation recently participated in the FDA’s Listening Session on “Patient and Care Partner Perspectives on Early Enrollment into Gene Therapy Clinical Trials for Rare Diseases.”

On the heels of our recent APBD Scientific & Community Conference, the Foundation team represented our community in person and virtually at key stakeholder convenings across the country. At the cornerstone of our work is the belief in advocacy and collaboration. We believe that through these efforts, we can advance APBD research and drug development. 

On September 18-19, over 200 attendees joined the 2024 APBD Scientific & Community Conference. The virtual event brought together stakeholders in the APBD community – researchers, health care providers, industry partners, and individuals and family members impacted by APBD.

The APBD Research Foundation is excited to announce a new collaboration with Costello Medical, Inc., following the Foundation’s successful application to Costello Medical’s pro bono project initiative for Rare Disease organizations. 

The APBD Research Foundation is delighted to introduce our newest team member, Becca Reef, MS, who has joined us as our part-time Science Coordinator.

The APBD Research Foundation, in partnership with the Orphan Disease Center (ODC) at the University of Pennsylvania, is pleased to announce the launch of the 2024 Million Dollar Bike Ride (MDBR) Pilot Grant Program.

We are excited to share that we are hosting our virtual APBD Scientific and Community Conference on September 18-19, 2024.