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]
Letter to APBD Community
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]
Navigating a Presymptomatic Diagnosis
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]
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. With a background as a scientist and decades of experience in strategic communications, Dr. Williford plays a [Read More]
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). As an incoming member, we join over 92 patient advocacy groups working together [Read More]
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. [Read More]
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. Identifying biomarkers in drug development [Read More]
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.* In spite of the challenging economic climate, we are committed to raising funds to advance APBD research. Through May 16, [Read More]
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. Dr. Arky is an obstetrics-gynecology (OBGYN) physician with 22 years of experience in private group practice in Manchester, CT. Before [Read More]
Sharing My Daughter’s GSD IV Diagnosis to Help Over 25,000 Individuals Impacted Globally
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]
Foundation Partners with Alex TLC and AGSD-UK to Host a Special Patient Chat Aimed at Engaging the International Community
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]
APBD Community Joins Millions of Rare Advocates Around the World for Rare Disease Day
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]
From MS to APBD: One Patient’s Diagnostic Journey
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]
CZI’s Cycle 1 Rare As One Impact Report Features APBDRF’s Work, Alongside Peers, to Advance Rare Disease Research
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]
Melanie Robinson’s Caregiving Journey Reaches Millions
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]
University of Texas Southwestern Medical Center and Newcastle University Scientists Awarded Million Dollar Bike Ride Grants for APBD Research
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 [Read More]
When a Physician Gets a Rare Disease Diagnosis
By Lawrence Arky, MD December 23, 2024 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 [Read More]
Dr. Larry Arky’s APBD Journey Reaches Millions
We are excited to share that a powerful narrative from OB/GYN Dr. Larry Arky who was diagnosed with APBD in April of 2023, has been published on KevinMD.com. Read Dr. [Read More]
Q&A with Or Kakhlon, PhD
Dr. Or Kakhlon is an associate professor in the Department of Neurology at Hadassah-Hebrew University Medical Center and a long-standing member of the APBD Research Foundation’s Scientific Advisory Board. He has been an important contributor to APBD research, co-authoring [Read More]
Q&A with Priya Kishnani, MD, MBBS and Rebecca Koch, PhD, RDN, LDN
Dr. Priya Kishnani is the C.L. and Su Chen Professor of Pediatrics and the Chief of the Division of Medical Genetics at Duke University. She also holds the position of Professor in the Department of Molecular Genetics and [Read More]
Patient Perspectives Shared with the FDA
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.” Becca Reef, MS, CGC, our Scientific Coordinator, spoke on [Read More]