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]
Navigating a Rare Neurodegenerative Disorder as Mother and Daughter
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]
Foundation on the Road: Advocating for You and Learning from Peers at Key Stakeholder Meetings
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]
2024 Virtual APBD Scientific & Community Conference is a Success!
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]
APBD Research Foundation Receives Crucial Support from Costello Medical to Build Bridges Between the APBD and GSD IV Communities
The APBD Research Foundation is excited to announce a new collaboration with Costello Medical, Inc., following the Foundation’s successful application to Costello Medical’s pro bono project initiative for Rare Disease organizations. With Costello Medical’s support, we will develop a comprehensive [Read More]
Meet Becca Reef, Our Newest Team Member!
The APBD Research Foundation is delighted to introduce our newest team member, Becca Reef, MS, who has joined us as our part-time Science Coordinator. Growing up just outside of Boston, Massachusetts, Becca was inspired to focus on making the [Read More]
Natural History Study of Hepatic Glycogen Storage Disease type IV and Comparison to Gbe1ys/ys Model
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.
Hot Off The Press: Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in Adult Polyglucosan Body Disease
Clinicians and researchers from the New York University (NYU) Grossman School of Medicine, in collaboration with the APBD Research Foundation (APBDRF), have published an exciting paper in the Journal of the Neurological Sciences. The study introduces the first disease-specific patient-reported [Read More]
APBD Research Funding Opportunity Through UPenn’s Million Dollar Bike Ride Pilot Grant Program
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]
Foundation to Host APBD Scientific and Community Conference
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]
APBD Tour de Friends Team Raises a Record-Breaking $134,000 During the 2024 Million Dollar Bike Ride For Rare Disease Research
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]
Understanding Polyglucosan Body Formation in APBD, Lafora Disease, and RBCK1-Deficiency Disease
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.
APBD Research Foundation’s Focus Group Brings APBD and GSD IV Communities Together for the First Time
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]
Nevertheless, She Persisted*
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]
APBD Featured in New Book, Kaleidoscope: Rare Disease Stories
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]
APBD Community Shines Bright on Rare Disease Day
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]
Proteomic Investigations of APBD: Insights into the Pathobiology of a Neurodegenerative Disorder
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.
Duke University and Research Fund of the Hadassah Medical Organization Scientists Awarded Million Dollar Bike Ride Grants for APBD Research
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]
Case Report: Expanding the Understanding of the APBD Continuum: Novel Presentations, Diagnostic Pitfalls, and Clinical Pearls
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.
Golden Heart Flower Granted FDA Orphan Drug Designation for GHF-201 for the treatment of Glycogen Storage Diseases Type IV, including APBD
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]
Q&A with Matthew Gentry, PhD
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]