About admin

This author has not yet filled in any details.
So far admin has created 183 blog entries.

Q&A with Or Kakhlon, PhD

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]

December 14th, 2024|

Patient Perspectives Shared with the FDA

The APBD Research Foundation recently participated in the FDA’s Listening Session on “Patient and Care Partner Perspectives on Early Enrollment into Gene Therapy Clinical Trials for Rare Diseases.” Becca Reef, MS, CGC, our Scientific Coordinator, spoke on [Read More]

December 13th, 2024|

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|
Go to Top