 
      
      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.
 
      
      Record-Breaking Success: APBD Tour de Friends Rally for Research Raises $178,000
The 2025 APBD Tour de Friends Rally for Research team raised a record-breaking $178,404 with the support of 287 donors. This achievement was made possible by our Board of Directors’ $50,000 match and Dr. Ora Gordon’s $36,000 match. We also acknowledge our peer-to-peer fundraising team leaders: Kathy Arky, Melanie Robinson, Faye Rosenberg, Alan Rosenthal and Robin Knoll, Carol Rosenstock, and Sharon Young.
 
      
      Golden Heart Flower Announces Phase I Trial in Europe
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.
 
      
      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.
 
      
      Lindsay Gill, Ph.D. Joins Foundation as Research Manager
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.
 
      
      Amber Robertson’s GSD IV Narrative Reaches Millions
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.
 
      
      Jeff Cooper’s Story Reaches Millions
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.
 
      
      Letter to APBD Community
In the May 2025 newsletter, we highlight two powerful examples of momentum in research and advocacy.
 
      
      Navigating a Presymptomatic Diagnosis
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.
 
      
      Treating the Rarest of the Rare: A Conversation with Dr. Amy Williford of n-Lorem Foundation
We’re honored to feature a Q&A with Dr. Amy Williford, Executive Director of Communications and Donor Relations at the n-Lorem Foundation.
 
      
      Accelerating Research and Drug Development Through Our Partnership with COMBINEDBrain
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).
 
      
      Key Takeaways from our Collaboration with Costello Medical
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.
Paving the Path to Treatment: Highlights from the APBD Biomarkers Workshop
On March 20, 2025, we hosted an APBD Biomarker Workshop that brought together over 20 APBD researchers and clinicians to address one of the most urgent challenges in developing effective treatments: identifying reliable biomarkers.
 
      
      Raising Funds to Advance APBD Research Has Never Been More Important
We are excited to launch the 2025 APBD Tour de Friends Rally for Research Fundraising Campaign to raise $150,000.
 
      
      Dr. Larry Arky Joins the APBD Research Foundation’s Board of Directors
The APBD Research Foundation is delighted to announce the appointment of Dr. Lawrence (Larry) Arky to its Board of Directors.
