2023 Helen Walker Research Grant Award

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 glycogenA stored form of sugar used for energy. More is regulated and degraded in skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. More. The project centers on identifying the mechanisms that control glycogenA stored form of sugar used for energy. More trafficking to the lysosomeA small part of the cell that acts like a recycling center, helping break down waste materials. More through autophagyThe cell's internal cleanup system that removes damaged or unneeded material. More.

The research aims to determine the specific receptor responsible for glycogenA stored form of sugar used for energy. More degradation in skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. More 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. More occurs and how it may be reduced in Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.

Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More is characterized by the buildup of glycogenA stored form of sugar used for energy. More in skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. More, which contributes to progressive muscle weaknessA loss of strength that can affect movement, posture, and sometimes breathing. More and respiratory complications. Current therapies, such as enzymeA protein that helps the body carry out chemical reactions. More replacement therapy, have limited effectiveness in reducing glycogen accumulationThe buildup of glycogen inside cells and tissues when it is not broken down properly. More in skeletal muscleMuscles that control movement and are commonly affected in Pompe disease. More. This research aims to improve understanding of how glycogenA stored form of sugar used for energy. More 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 buildupThe buildup of glycogen inside cells and tissues when it is not broken down properly. More and improve outcomes for individuals living with Pompe diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.

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 tr... More and molecular biology experiments; proteomicsThe large-scale study of proteins in cells or tissues. More analysis, including mass spectrometryA lab method used to identify and measure molecules such as proteins. More usage and data analysis; next-generation sequencingAdvanced technology used to quickly analyze genetic material and identify gene changes. More 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. More for biochemical studies; and capital equipment for protein purification necessary to isolate and study glycogen-associated factors.

This section will be updated as we collect more information about presentations, follow-up studies, or related outputs from this project.

The Helen Walker Research Grant honors Helen Walker, a dedicated patient advocateA person who helps patients and families navigate care, information, services, and support. More 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 diseaseA rare genetic disease in which the body cannot properly break down glycogen, leading to buildup tha... More.