Past Grant Recipients
🏆 2025 Grant Recipient(s)
Stay Tuned!
🏆 2024 Grant Recipients
Dr. Felix Nitschke, PhD | UTSW Medical Center
Research Project: From Mouse to Human – Establishing Novel Biomarkers for APBD
Grant Amount: $56,857
Dr. Nitschke is teaming up with co-investigators Mayank Verma, MD, PhD (UT Southwestern) and Nirbhay Yadav, PhD with the aim to develop reliable MRI imaging, urine, and blood biomarkers to monitor disease progression and evaluate treatment efficacy in future clinical trials.
View the official grant announcement here.
Dr. Wyatt Yue, PhD | Newcastle University
Research Project: Development of Glycogen Synthase Inhibitors for APBD
Grant Amount: $56,857
Dr. Yue’s award-winning proposal builds on an innovative screening approach made possible by the MDBR grant he received in 2021. By integrating this cutting-edge method with his team’s exceptional chemical and biochemical expertise, he is seeking an oral therapy for APBD patients.
View the official grant announcement here.
🏆 2023 Grant Recipients
Dr. Priya Kishnani, MD, MBBS & Dr. Rebecca Koch, LDN, RDN, PhD | Duke University
Research Project: Deep Tissue and Cellular Phenotyping of APBD: A Bench to Bedside Approach
Their project aims to increase the knowledge and understanding of the specific cells and tissues involved in APBD, as well as assess how the disease pathology changes over the course of the disease.
Q&A: Read the Interview
Dr. Or Kakhlon, PhD | Hadassah-Hebrew University Medical Center
Research Project: Combinations of Small Molecules as Potential Therapeutic Agents for APBD
His project aims to enhance promising compounds for treating APBD; and establish new biomarkers, including neurofilaments and metabolites.
Q&A: Read the Interview
🏆 2022 Grant Recipients
Dr. Matthew Gentry, PhD | University of Florida
Research Project: Defining APBD Pre-Clinical Biomarkers and Assessing a Therapy in an APBD Mouse Model
His project aims to identify markers in the brain that may help detect APBD earlier or track its progress, as well as test a possible enzyme-based treatment in a mouse model of APBD using insights from research for other rare conditions.
Q&A: Read the Interview
Dr. Berge Minassian, MD & Dr. Mayank Verma, MD, PhD | UT Southwestern Medical Center
Research Project: Glucan Fingerprint as a Biomarker in APBD
Their project aims to explore a simple way to track APBD using urine samples. In the past, abnormal glycogen buildup has been difficult to measure without invasive procedures. However, when the body tries to break down this abnormal glycogen, small pieces are released into the urine. Dr. Minassian & Dr. Verma’s team found a way to detect these small fragments in mice with APBD. Now, they look to do the same in people.
Q&A: Read the Interview
🏆 2021 Grant Recipients
Dr. Wyatt Yue, PhD | Newcastle University
Research Project: Discovery of Glycogen Synthase Inhibitors for Validation as a Novel Therapeutic Target for Adult Polyglucosan Body Disease
His project aims to develop a pill to help treat APBD. The pill would work by targeting an enzyme involved in making abnormal clumps, or polyglucosan bodies, that build up and cause symptoms. By reducing this enzyme’s activity, the treatment hopes to prevent these clumps and slow down the progression of disease.
Q&A: Read the Interview
🏆 2020 Grant Recipient
Dr. Felix Nitschke, PhD | UT Southwestern Medical Center
Research Project: Conquer from Within – Treating APBD by Viral Delivery of Cross-Correction-Enabled Amylase
His project aims to develop a new gene therapy to treat APBD by helping the body break down abnormal sugar (glycogen) buildup. His team is creating a special version of the enzyme amylase that can be delivered with a single dose of gene therapy to reduce polyglucosan bodies.
Q&A: Read the Interview
🏆 2019 Grant Recipients
Dr. Or Kakhlon, PhD | Hadassah-Hebrew University Medical Center
Research Project: Testing the Efficacy of New Pharmaceutical Candidates for APBD
Dr. Baodung Sun, PhD | Duke University
Research Project: Gene Therapy for APBD
🏆 2018 Grant Recipients
Dr. Or Kakhlon, PhD | Hadassah-Hebrew University Medical Center
Research Project: Pharmacological, Histological, and Metabolic Analyses of a New Drug Candidate for APBD
Dr. Berge Minassian, MD | UT Southwestern Medical Center
Research Project: Gene Replacement Therapy for APBD
🏆 2017 Grant Recipients
Dr. H. Orhan Akman, PhD | Columbia University Medical Center
Research Project: Could Restoring GBE in Affected Tissues be a Treatment for APBD?
Dr. Or Kakhlon, PhD | Hadassah-Hebrew University Medical Center
Research Project: Testing APBD Drug Candidates for Restoration of Multiple Cell Features and Gene Expression Profiles
🏆 2016 Grant Recipient
Dr. H. Orhan Akman, PhD | Columbia University Medical Center
Research Projects:
The Efficacy of Guaifenesin in the Treatment of APBD
Treatment of APBD Caused by an Intronic Mutation in Glycogen Branching Enzyme Gene