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]
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]
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]
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]
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]
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]
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]
By Melanie Robinson November 12, 2024 Before her diagnosis, my mom was extremely active and healthy. She loved bird watching, walking, and volunteering at her church and its school. So in 2013, when she began experiencing [Read More]
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 [Read More]
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 [Read More]