Rebecca Schmitt, PhD, Receives ANF Development Grant for Research on Aberrant Autophagy and Myogenesis in GNE Myopathy

Published March 05, 2025

Development Grants

 


Rebecca Schmitt, PhD, an assistant scientist in anatomy, cell biology, and physiology at the Indiana University School of Medicine, Indiana, has been awarded an American Neuromuscular Foundation (ANF) Development Grant to support her research, “Evaluation of Aberrant Autophagy and Myogenesis in GNE Myopathy.” Dr. Schmitt’s research aims to uncover the underlying mechanisms behind GNE myopathy, a rare genetic disorder that leads to progressive muscle weakness and wasting. She is motivated by the lack of understanding of this disease and its impact on patients and hopes this research is the next step toward finding treatments and cures.

“Neuromuscular diseases result in disability, drastic quality of life changes, and eventual long-term dependency on caregivers. To date, many neuromuscular diseases (NMDs) do not have cures or substantive treatments. We investigate one such NMD, GNE myopathy, to uncover underlying contributing factors of the disease,” she says. Addressing the impact of GNE myopathy, Dr. Schmitt says that the effects differ per person, from age of onset to severity of symptoms. With no treatments or cures for GNE myopathy, she notes the importance of studies like this to eliminate the knowledge gap and improve patient care by preventing worsening symptoms, improving muscle health, and finding a cure.


Dr. Schmitt says that although GNE myopathy is considered a rare disease with low overall global prevalence, there are ethnic populations anticipated to be affected at a much higher rate.  In addition, the current number of GNE myopathy patients recorded likely does not capture the full extent of those suffering from GNE myopathy, as many who suffer from it may not have a diagnosis or may be misdiagnosed. “Furthermore, unlike other diseases that have established pre-clinical (animal) models, the ones created for GNE myopathy have not been able to recapitulate the human phenotype. This has allowed for opportunities to create reliable models, which we are utilizing for  investigations,” she says. 

To produce a basic understanding of the molecular pathways involved in how mutations in the GNE gene lead to the development of the clinical phenotype and potential therapeutic strategies, Dr. Schmitt and her team have planned extensive research. “GNE myopathy typically presents within the second or third generation of life with the typical symptom of muscle weakness in the lower legs. There is a slow progression of muscle weakness, including the upper leg and arm muscles. Currently, little is understood about the mechanism of GNE myopathy, besides that mutations in the gene GNE result in the clinical pathology. We utilize a patient-derived cell-based model, molecular analyses, and genetic tools to investigate mechanisms and therapeutic avenues. Specifically, we are studying the role of autophagy – a process used to remove unwanted components in a cell – in which we have discovered activation of autophagy can improve muscle health in the GNE myopathy patient-derived samples,” she says.

She hopes the long-term results of this research will allow for investigations into potential therapeutic strategies that improve patient quality of life. 

Learn more about ANF research grants, and support researchers like Dr. Schmitt today with a donation. 

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