2023 Helen Walker Research Grant Award
Massachusetts General Hospital, Harvard Medical School | Gregory Wyant, PhDSupporting research aimed at improving autophagy-mediated glycogenA stored form of sugar used for energy. regulation in skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. for Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup that damages muscles and can affect breathing and, in some cases, the heart..
Quick Facts
Year Awarded:
2023
Funding Amount:
$150,000
Lead Investigator:
Gregory Wyant, PhD
Institution:
Massachusetts General Hospital, Harvard Medical School
Research Focus:
Disease mechanism and therapeutic target discovery
Status:
Ongoing
Project Title
AutophagyThe cell's internal cleanup system that removes damaged or unneeded material. Control of Glycogen in Skeletal Muscle
Project Snapshot
In 2023, the AMDA awarded the Helen Walker Research Grant to Gregory Wyant, PhD, at Massachusetts General Hospital, Harvard Medical School, to support a project focused on understanding how glycogen is regulated and degraded in skeletal muscle. The project centers on identifying the mechanisms that control glycogen trafficking to the lysosomeA small part of the cell that acts like a recycling center, helping break down waste materials. through autophagy.
The research aims to determine the specific receptor responsible for glycogen degradation in skeletal muscle and to develop new tools to study this process. Using biochemical, genetic, and screening approaches, the study seeks to better understand how glycogen accumulationThe buildup of glycogen inside cells and tissues when it is not broken down properly. occurs and how it may be reduced in Pompe disease.
Research Objectives
The project aimed to address key questions related to glycogen trafficking and autophagy in Pompe disease:
1. Biochemical identification of glycogen-associated proteins
Researchers will use biochemical isolation and proteomic analysis to identify proteins that bind to glycogen and are required for its transport to the lysosome in skeletal muscle.
2. Identification of genes promoting glycogen degradation
The team will perform a genome-wide CRISPR activation screen to identify genes that, when activated, promote autophagy-dependent glycogen degradation in muscle cells.
Why This Matters
Pompe disease is characterized by the buildup of glycogen in skeletal muscle, which contributes to progressive muscle weaknessA loss of strength that can affect movement, posture, and sometimes breathing. and respiratory complications. Current therapies, such as enzymeA protein that helps the body carry out chemical reactions. replacement therapy, have limited effectiveness in reducing glycogen accumulation in skeletal muscle. This research aims to improve understanding of how glycogen is transported and degraded within muscle cells by identifying key molecular mechanisms involved in this process. These insights may support the development of more effective strategies to reduce glycogen buildup and improve outcomes for individuals living with Pompe disease.
Research Team
Institution
Massachusetts General Hospital, Harvard Medical School, United States
Lead Investigator
Gregory Wyant, PhD
Assistant Professor of Medicine
Co-Investigator
Shariq Qayyum, PhD
Post-Doctoral Fellow
Lead Investigator
Gregory Wyant, PhD
Assistant Professor of Medicine
Co-Investigator
Shariq Qayyum, PhD
Post-Doctoral Fellow
Grant Support
The AMDA awarded $150,000 through the Helen Walker Research Grant to support this project.
Funding supported laboratory supplies for cell cultureA laboratory method used to grow cells outside the body so researchers can study disease and test treatments. and molecular biology experiments; proteomicsThe large-scale study of proteins in cells or tissues. analysis, including mass spectrometryA lab method used to identify and measure molecules such as proteins. usage and data analysis; next-generation sequencingAdvanced technology used to quickly analyze genetic material and identify gene changes. for CRISPR-based genetic screening; animal housing and maintenance for experimental models; acquisition of mouse modelsA laboratory mouse used to study disease and test treatments before human trials. for biochemical studies; and capital equipment for protein purification necessary to isolate and study glycogen-associated factors.
Publications Resulting from This Research
This section will be updated as we collect more information about publications resulting from this research.
Related Outputs
This section will be updated as we collect more information about presentations, follow-up studies, or related outputs from this project.
Ongoing Impact
Research supported by the Helen Walker Research Grant helps build knowledge that can shape future studies, clinical care, and treatment strategiesA planned approach to managing disease that may include medicines, monitoring, supportive care, and other therapies. in Pompe disease. As additional publications, presentations, and follow-up work emerge, this page will continue to be updated.
About the Helen Walker Research Grant
The Helen Walker Research Grant honors Helen Walker, a dedicated patient advocateA person who helps patients and families navigate care, information, services, and support. and leader in the Pompe community. Through this grant, the AMDA supports innovative research aimed at improving understanding, treatment, and care for individuals living with Pompe disease.
Explore more Helen Walker Research Grant awardees and the growing body of Pompe research supported by the AMDA.