When a 13-Year-Old Takes on The Fight for a Cure!
January 4, 2021 Elliott and his family after completing their 36-mile bike ride, Double Chai for a Cure. In anticipation of his bar mitzvah [Read More]
January 4, 2021 Elliott and his family after completing their 36-mile bike ride, Double Chai for a Cure. In anticipation of his bar mitzvah [Read More]
We are thrilled to announce that our community raised an incredible $178,404 during the APBD Tour de Friends Rally for Research fundraising campaign, exceeding our original goal of $150,000. Together, we demonstrated the strength and unity of our [Read More]
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. GHF-201 is a therapy designed to reduce polyglucosan body accumulation -- the underlying [Read More]
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 [Read More]
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 [Read More]
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. Read Amber’s narrative Amber shared, “Even before Mia was born, I could sense that something about her [Read More]
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. Read Jeff's narrative Jeff shared, “I have always been [Read More]
Dear Friend, In the May 2025 newsletter, we highlight two powerful examples of momentum in research and advocacy. First, we explore the groundbreaking personalized treatment advances led by the n-Lorem Foundation. Although this therapy (which is still in development) [Read More]
By Liv Palma May 22, 2025 What is 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. That is, they [Read More]
We're honored to feature a Q&A with Dr. Amy Williford, Executive Director of Communications and Donor Relations at the n-Lorem Foundation. With a background as a scientist and decades of experience in strategic communications, Dr. Williford plays a [Read More]
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). As an incoming member, we join over 92 patient advocacy groups working together [Read More]
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. [Read More]
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. Identifying biomarkers in drug development [Read More]
We are excited to launch the 2025 APBD Tour de Friends Rally for Research Fundraising Campaign to raise $150,000.* In spite of the challenging economic climate, we are committed to raising funds to advance APBD research. Through May 16, [Read More]
The APBD Research Foundation is delighted to announce the appointment of Dr. Lawrence (Larry) Arky to its Board of Directors. Dr. Arky is an obstetrics-gynecology (OBGYN) physician with 22 years of experience in private group practice in Manchester, CT. Before [Read More]
By Amber Robertson March 21, 2025 Editor’s Note: APBD (the late-onset form of GSD IV) and Andersen Disease (the early-onset form of GSD IV) share the same underlying root cause -- changes in the GBE1 gene which causes deficiency of [Read More]
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. With this unique Chat offering, we [Read More]
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. In the lead-up to the day, we [Read More]
By Jeff Cooper I have always been a performer at heart, starting with theater in school. For 28 years, I was a law professor at Indiana University in Indianapolis, and teaching gave me a captive audience. Beyond the classroom, [Read More]
Click here to read the Report. Check out pages 16-17 to read APBDRF's key achievements during the grant. We are excited to share the recently released Chan Zuckerberg Initiative (CZI) Rare As One Impact Report. [Read More]
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. Read Melanie’s narrative Melanie [Read More]