The Myotonic Dystrophy Foundation made the following Research Fellowship grants in 2025:

Louison Daussy, MSc  
Graduate Student 
Institut National de la Santé et de la Recherche Médical - DR Paris Centre Est, Paris, France 

The neurological symptoms of DM1 significantly affect daily life, leading to cognitive challenges, low education levels, unemployment, and social deprivation. Future treatments could improve social integration by enhancing education and employment opportunities, reducing the socioeconomic burden on patients and their families. The effects of DM1 on the brain remain poorly understood. Initial findings reveal that DM1 disrupts neuron morphology and vesicle transport, which are critical for neurotransmitter release and brain communication. This discovery opens new avenues for research. The project “DM1 Neuropathology: From Neuronal Morphology and Axonal Transport to the Reversion of Brain Disease” aims to investigate neuron-specific aspects of DM1 and test strategies to correct them. Using mouse models, the study will examine how DM1 affects neuron morphology, function, and signaling proteins. A novel model will assess whether reversing gene expression in neurons can alleviate brain symptoms. This research will deepen understanding of DM1’s neurological effects, inform targeted therapies, and address the critical question of whether brain symptoms can be reversed. Click here to learn more about Louison Daussy.

Emily Davey, BS
Graduate Research Assistant
University of Florida, Gainesville, FL, US 

DM1 affects the brain, causing symptoms like excessive daytime sleepiness, apathy, and difficulties with learning and memory, which patients report as major burdens. However, little is known about the underlying causes of these symptoms. The brain consists of multiple regions with unique functions, but previous studies have focused only on a few regions in a limited number of patients. This project “Uncovering regional and cell-type specific transcriptomic signatures in the DM1 brain” aims to study global RNA-level changes in 11 brain regions of DM1 patients to identify whether changes are localized or widespread. Since each brain region contains various specialized cell types, the study will use methods that track the RNA of individual cells to determine which types are affected. This approach will also quantify the proportion of affected cells within each type. Ultimately, this research will create a transcriptomic atlas of the DM1 brain, providing insights into the regions and cell types driving the observed symptoms. Click here to learn more about Emily Davey.

Diana Alejandra Madrid Fuentes, MSc 
Doctoral Student
Wake Forest University Health Sciences, Winston-Salem, NC, US 

Effective biomarkers are crucial for understanding diseases, developing treatments, and monitoring treatment response over time. MRI shows promise as a biomarker, as it is non-invasive, widely accessible, and highly accurate, with success in other muscular dystrophies. The study “Validating Muscle MRI as a Biomarker of Disease Status in DM2” aims to fill a gap in DM2 research by collecting lower extremity MRI data from DM2 patients and healthy controls. Using an open-source AI approach, the study will assess muscle characteristics, such as fat percentage and muscle tissue capable of generating force. Specialized muscle images will also be analyzed for edema. The study will validate these MRI measures against motor outcomes like muscle strength and walking speed. Building on ongoing DM2 brain imaging research, this study provides an efficient, cost-effective approach to determine if quantitative MRI is a viable biomarker for DM2. Click here to learn more about Diana Alejandra Madrid Fuentes.

Haneui Bae, PhD
Postdoctoral Research Associate
University of Illinois Urbana-Champaign, Urbana, IL, US 

Clinicians and researchers have so far focused on the symptoms in skeletal muscles, heart, and brain; however, many DM1 patients also suffer from metabolic and liver-specific symptoms, such as metabolic dysfunction-associated steatotic liver disease (MASLD) and metabolic syndrome. In addition, patients also experience heightened sensitivity to a wide range of anesthesia, muscle relaxants and other drugs, resulting in prolonged recovery time, respiratory depression, increased risk of complications during surgical procedures, and broadly altered drug metabolism. These manifestations indicate malfunctioning of the liver, a major site of nutrient and drug metabolism, yet this possibility has not been investigated thoroughly. The project “Investigating the molecular mechanisms of liver dysfunctions in myotonic dystrophy” aims to understand the precise mechanisms of DM1 pathogenesis in the liver and identify targets for therapeutic intervention. Understanding how nutrient and drug metabolism is disrupted in DM1 will have important translational implications for developing new therapeutics and managing the health and lifestyle of DM1 patients. Click here to learn more about Dr. Bae.

Cécilia Légaré, PhD 
Postdoctoral fellow
Research Foundation of SUNY - University at Albany, NY, US 

DM1 patients experience symptoms like muscle weakness, difficulty relaxing muscles, and respiratory problems. While there is no cure, treatment focuses on managing symptoms. Recently, strength-training programs have shown promise as a therapeutic approach. Dr. Légaré’s team developed a 12-week program to address muscle weakness in DM1 patients. Their results showed improvements in lower body strength, walking speed, and daily function in men, with similar gains in women. However, the molecular mechanisms behind these improvements are not yet understood. Building on findings from male patients, in the project “Identification of a transcriptomic signature in myotonic dystrophy type 1” the team will now study female DM1 patients to compare molecular responses to training. They will also examine molecular changes over three years to assess long-term effects. Additionally, the team will explore non-invasive biomarkers by analyzing saliva samples from DM1 patients and healthy individuals, aiming to develop more effective, non-invasive disease markers. Click here to learn more about Dr. Légaré.