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 [...]
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 [...]
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 [...]
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 [...]
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 [...]
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 [...]
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 [...]
Q&A with Berge Minassian, MD
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 [...]
APBD Research Foundation Expands its Scientific and Medical Advisory Board with the Addition of Dr. Jennifer Orthmann-Murphy, Dr. Felix Nitschke, Dr. Matthew Gentry, and Dr. Wyatt Yue
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 [...]
Meet Anesa Kajtazovic, the Newest Addition to our Team!
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 [...]
APBD Research Foundation to Participate in the Glycogen Storage Disease Value Project
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 [...]
A Wife’s Perspective on APBD
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 [...]
Taking APBD One Day at a Time
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 [...]
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 2023 Million Dollar Bike Ride Pilot Grant Program. We are honored to be a part of [...]
Michael Canmann Joins the APBD Research Foundation’s Board of Directors
The APBD Research Foundation is delighted to announce the appointment of Michael Canmann to its Board of Directors. Michael Canmann is Executive Vice President & Chief Financial Officer of CC Industries, Inc. - a Henry Crown Company. He has over [...]
Foundation Partners with Probably Genetic to Address Diagnostic Challenges
We are thrilled to announce that the APBD Research Foundation has partnered with Probably Genetic to increase access to genetic testing within our community. APBD is an ultra-rare, monogenic, and complex multi-system condition. Because it is difficult for health [...]
APBD Tour de Friends Team Raises $100,000 During the 2023 Million Dollar Bike Ride For Rare Disease Research
We had our largest group yet: 290 eager and imaginative riders, walkers, and donors on the APBD Tour de Friends team participated in the 2023 Million Dollar Bike Ride (MDBR) on June 10. It was our eighth consecutive year [...]
Paul Ashley Joins the APBD Research Foundation’s Board of Directors
The APBD Research Foundation is delighted to announce that Paul Ashley has joined the Board of Directors. Paul is based in Calgary and has more than 25 years of sales and account management experience.“We are thrilled to welcome Paul to the [...]
Foundation Approves and Implements its 2023-2025 Strategic Plan
We are excited to share the APBD Research Foundation’s 2023-2025 Strategic Plan. This Strategic Plan is the result of efforts spanning eight months, involving our Board of Directors, members of our Scientific Advisory Board, staff, mentors, and Foundation partners [...]