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]
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]
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]
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]
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]
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. 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]
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]
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]
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]
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]
By Ann Cooper February 17th, 2023 After my first grandchild was born, my daughter, Sarah, and I were sitting in her living room one afternoon when she asked me, “Mom, when do you stop worrying about [Read More]
The Million Dollar Bike Ride for rare disease research is a significant funder of APBD research. In January 2021, Felix Nitschke, PhD, assistant professor in the departments of Pediatrics and Biochemistry at UT Southwestern Medical Center, received a MBDR [Read More]
Wyatt Yue, PhD, Professor of Structural Biology at Newcastle University, is the grant recipient of the 2021 Million Dollar Bike Ride for rare disease research. His research proposal outlines the discovery of glycogen synthase inhibitors as a novel therapeutic [Read More]
Together with his son, Alan runs an avant-garde, highly atmospheric, candle-making bar named Wax + Wine, where customers sip wine while pouring aromatic candles. Alan gets up early and drives himself to work 5 days a week, but he describes [Read More]
Together with his son, Alan runs an avant-garde, highly atmospheric, candle-making bar named Wax + Wine, where customers sip wine while pouring aromatic candles. Alan gets up early and drives himself to work 5 days a week, but he describes [Read More]
“It’s been working on me for 20 years,” says Jeff, an APBD patient who was fully employed and physically active despite increasingly troublesome symptoms. He was a runner, too. But then he began noticing that he was getting up from [Read More]