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 honored to [Read More]
We are excited to share that we are hosting our virtual APBD Scientific and Community Conference on September 18-19, 2024. Join us as we bring together stakeholders in the APBD community – researchers, health care providers, industry partners, and individuals and [Read More]
On June 8th, our APBD Tour de Friends team gathered on the ground in Philadelphia, biking, walking, and scootering, while over 271 virtual participants and donors joined in support from across the country. Together, we soared to new heights [Read More]
Researchers from the University of Texas Southwestern Medical Center (UT Southwestern) and the University of Tokyo have recently published an article describing the mechanistic pathways of APBD, Lafora Disease (LD), and RBCK1-Deficiency disease (RD) -- three glycogen storage disorders (GSDs). The study published in the journal Acta Neuropathologica presents novel biochemical and pathological firsts that enhance our understanding of APBD and inform efforts to develop effective therapies for this devastating disease.
On May 6, 2024, the APBD Research Foundation hosted a virtual Focus Group that brought together, for the first time, over 50 participants representing the Adult Polyglucosan Body Disease (APBD) and Glycogen Storage Disease Type IV (GSD IV) communities. [Read More]
By Sarah Williams [Editor's Note: Our thanks to Kerry Wong for featuring Sarah Williams’s APBD narrative in her newly published book, "Kaleidoscope: Rare Disease Stories." The book is a collection of first-person stories from people around the world living with a variety [Read More]
Kerry Wong We are excited to share that Sarah William’s APBD journey is featured in the newly published book, Kaleidoscope: Rare Disease Stories, by Kerry Wong. The stories featured in this book are firsthand narratives from individuals [Read More]
The APBD community joined the National Organization for Rare Disorders and rare disease communities around the world to celebrate Rare Disease Day on February 29th. Leading up to the day, we urged our community to wear [Read More]
Researchers at the Cleveland Clinic have published their findings of a proteomic investigation of APBD that adds to our understanding of the disease’s underlying mechanism. The findings have been published in the scientific journal Frontiers in Neurology. Understanding the pathogenesis of ABPD is important for the development of effective APBD therapies.
The APBD Research Foundation is pleased to share that Or Kakhlon, PhD (Research Fund of the Hadassah Medical Organization) and Priya Kishnani, MD, MBBS and Rebecca Koch, PhD, RDN, LDN (Duke University Medical Center) are the recipients of rare disease [Read More]
Researchers at Duke University and the University of São Paulo (Brazil) have published an enlightening case report describing the clinical course and diagnostic odyssey of seven individuals with APBD in the scientific journal Frontiers in Genetics.
We are excited to share that Golden Heart Flower, Ltd. announced that the U.S. Food and Drug Administration (FDA) has granted Orphan Drug Designation for the company’s product GHF-201 to treat glycogen storage disease type IV, including APBD. Golden Heart [Read More]
Dr. Matthew Gentry is a Professor and Chair of Biochemistry & Molecular Biology in the College of Medicine at the University of Florida. He is a prominent brain metabolism scientist who has made groundbreaking discoveries in the realm [Read More]
Berge Minassian, MD, is a Professor in the Departments of Pediatrics and Neurology at UT Southwestern Medical Center. Dr. Minassian is a pediatric neurologist whose clinical specialties are epilepsy, neurodegenerative diseases, and neurogenetic conditions. The Chief of Child Neurology at UT Southwestern, he also leads the Neurosciences Center at Children’s [Read More]
The APBD Foundation is excited to announce key additions to its Scientific and Medical Advisory Board (SMAB). From left to right: Jennifer Orthmann-Murphy, MD, PhD; Felix Nitschke, PhD; Matthew Gentry, PhD; and Wyatt Yue, PhD [Read More]
The APBD Research Foundation is delighted to introduce our newest team member, Anesa Kajtazovic, who has joined us as our part-time Community Affairs Officer. Anesa brings with her a wealth of experience from the realms of nonprofits and governmental [Read More]
New York, NY – The APBD Research Foundation is excited to contribute to the Glycogen Storage Disease (GSD) Value Project. This initiative will develop an internationally applicable set of patient health outcomes that are relevant to individuals with liver GSDs [Read More]
By Robin Knoll October 20th, 2023 My friends and family have always told me that I do too much. Between my job as a social worker and volunteering with Hadassah for the last 36 years, advocating for [Read More]
By Bruce Rosky, Caregiver and APBD advocate January 4, 2023 It was in 2012 that I started to realize that my wife Jennifer’s memory lapses were a significant sign to be taken seriously. That insight set us [Read More]
The APBD Research Foundation in partnership with the Orphan Disease Center (ODC) at the University of Pennsylvania is pleased to announce the 2023 Million Dollar Bike Ride Pilot Grant Program. We are honored to be a part of [Read More]