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]

August 22nd, 2024|

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.

August 21st, 2024|

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.

May 17th, 2024|

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]

March 19th, 2024|

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]

February 29th, 2024|

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]

December 13th, 2023|

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 [Read More]

December 13th, 2023|

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 [Read More]

November 6th, 2023|
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