The Myotonic Dystrophy Foundation made the following grants in 2025:
2025 MDF Early Career Scholars:
Lukasz Jakub Sznajder, Ph.D.
Assistant Professor
University of Nevada, Las Vegas, NV, US
DM2 has been significantly less studied than DM1, with no approved treatments or clinical trials available. Developing tailored therapeutic approaches based on the specific molecular mechanisms of DM2 is crucial. While both DM types share some molecular features, DM2’s mechanism is more complex. Evidence suggests that DM2 results primarily from the toxicity of expanded CCUG RNA repeats, but the exact form of the toxic RNA remains unclear. Previous studies have shown that these repeats are retained in aberrantly spliced mRNA, which is exported to the cytoplasm—a crucial discovery in understanding DM2. This project “Probing Expanded RNA Species and Their Role in DM2” aims to test whether mRNA with retained CCUG repeats is a key pathogenic molecule in DM2 and to develop therapeutic strategies to prevent such retention. Furthermore, a cost-effective method will be created to detect and quantify intron retention. Using DM2 cell lines and tissues, along with bioinformatics and molecular biology tools, this project will provide insights into the DM2 mechanism and lay the groundwork for future therapeutic development. Click here to read more about Dr. Lukasz Jakub Sznajder.
Scott Uhlrich, Ph.D.
Assistant Professor, Director of Movement Bioengineering Laboratory
The University of Utah, Salt Lake City, UT, US
While new drugs are in development for DM1, clinical trials are limited by inadequate outcome measures for evaluating effectiveness. Existing measures, such as the 10-meter walk test, are not sensitive to subtle changes in movement quality or the many aspects of daily function that impact quality of life. This project “Novel digital functional outcome measures for myotonic dystrophy using smartphone video” aims to develop a digital functional outcome measure using OpenCap, a software that measures human motion with two smartphone cameras. The project has two goals: 1) create a video-based measure that captures multiple activities affected by DM1, using machine learning to assess deviations in movement; and 2) test the feasibility of home-based assessments with a single smartphone camera. By measuring daily function remotely, this new approach could improve sensitivity, reliability, and accelerate clinical trials for DM1 treatments. Click here to read more about Dr. Scott Uhlrich.
Short Term, High-Priority Grants:
Katarzyna Taylor, Ph.D.
Research Assistant Professor
Adam Mickiewicz University (Uniwersytet im. Adama Mickiewicza w Poznaniu), Poznan, Poland
MBNL plays a crucial role in promoting alternative splicing patterns and maintaining cell differentiation. In DM1, the depletion of the MBNL pool impairs cellular function. Current research focuses on strategies to replenish functional MBNL levels, as uncontrolled overexpression can lead to negative consequences. Understanding and regulating the endogenous expression of MBNL is essential, as mild increases in MBNL concentration can avoid adverse effects. Fine-tuning MBNL levels may provide novel therapeutic opportunities, potentially in combination with other treatments. A molecule targeting MBNL expression is currently undergoing clinical trials. However, the mechanisms regulating MBNL expression remain largely unexplored. The project “Identification of novel molecular mechanisms of MBNL1 expression as potential DM therapeutic targets” aims to identify novel regulatory elements controlling MBNL1 expression, expanding therapeutic targets and contributing to the development of personalized or combination therapies based on disease onset, progression, and individual patient response. Click here to read about Dr. Katarzyna Taylor.
Samuel Carrell, M.D., Ph.D.
Assistant Professor of Neurology
Virginia Commonwealth University, Richmond, VA, US
Individuals with myotonic dystrophy exhibit common symptoms such as muscle weakness, cramping, heart rhythm issues, and cognitive difficulties. However, the age of onset, severity, and specific symptoms vary widely among patients. The disease is caused by an expansion in a gene’s repetitive sequence, which correlates with the timing of symptom, though only about 20% of the variability is explained. This uncertainty complicates clinical trial planning and medical care. Given this variability, the project “Identifying Genetic Sources of Disease Variability in Myotonic Dystrophy Type 1” hypothesizes that additional genetic factors contribute to or protect against disease manifestations. To identify these genes, Dr. Carrell plans to systematically knock out each gene in muscle progenitor cells derived from patients with DM1 and DM2. By measuring activity, he will sort the cells based on their response and validate the genes that influence disease progression, paving the way for future research to understand their impact on DM patients. Click here to read more about Dr. Samuel Carrell.
Pilot Grants:
Kate Eichinger, PhD
Physical Therapist
University of Rochester, New York, US
Currently, there are no FDA-approved treatments for DM1, though promising clinical trials are underway. One challenge with clinical trials is identifying ways to detect changes in function, as traditional tests show small differences over time. New technology, like wearable sensors, offer a potential solution. These sensors collect data while a person performs walking and balance tasks. Data is then processed to provide objective and precise measures of function. Wearable sensors and the derived measures have been used successfully in other conditions and have shown potential to detect early changes in function. The study “Wearable Sensors to Monitor Gait and Balance in Individuals with Myotonic Dystrophy” will use wearable sensors to collect data on walking and balance in adults with DM1. By analyzing this data, the researchers aim to identify reliable and accurate methods to detect changes in function earlier. These new methods could help health care providers and researchers better understand how DM1 affects walking and balance, leading to more effective care and paving the way for improved health, wellness, and quality of life in individuals with DM1. Click here to read more about Dr. Kate Eichinger.
Juan Manuel Fernandez, PhD
Senior Researcher
Fundacio Institut de Bioenginyeria de Catalunya (Institute for Bioengineering of Catalonia), Spain
DM2 is caused by a specific genetic mutation that disrupts the normal function of cells, leading to widespread effects on muscle and other tissues. Despite its impact, there are no effective treatments for DM2, partly because there is a lack of reliable models to study the disease and test new drugs. The Biomimetic Muscle Models for in vitro functional analysis and drug assessment in DM2 (BMM-2) project aims to tackle this challenge by creating a groundbreaking "muscle-on-a-chip" platform. This platform uses 3D muscle tissues grown from cells donated by DM2 patients. These tiny muscle tissues are engineered to behave like real muscles, even showing features of DM2 such as weakness and myotonia. To make these tissues as lifelike as possible, they grow them on special materials that mimic the structure of muscle and use electrical stimulation to improve their development and function. This approach allows them to measure how the disease affects muscle strength and movement. In addition, they will analyze the fluid surrounding the muscle tissues to find molecules, called biomarkers, that could help us track the disease or measure how well new treatments are working. These biomarkers will eventually be used in tiny sensors integrated into the platform, providing real-time feedback during drug testing. This project has the potential to transform the study of DM2 and develop new therapies. By combining advanced engineering, patient-derived cells, and biosensor technology, they aim to create a cost-effective tool that allows for faster and more accurate drug testing. In the future, this platform could also help doctors personalize treatments for patients and monitor their progress over time. Click here to read more about Dr. Juan Manuel Fernandez.
David Housman, PhD and Christopher Ng, Sc.D.
Ludwig Professor of Biology/ Research Scientist
Massachusetts Institute of Technology – MIT, Cambridge, Massachusetts, US
The project “A Targeted DNA Repair Enzyme Therapy for Myotonic Dystrophy” aims to develop a groundbreaking therapy that uses a specialized viral system, called an adeno-associated virus (AAV), to deliver a therapeutic protein directly into muscle cells. This protein, which is part of the body’s natural DNA repair machinery, has the ability to stabilize the disease-causing CTG repeat expansions and prevent them from worsening over time. By reducing further damage to the DNA, this approach has the potential to protect muscle cells, improve their function, and slow the progression of the disease. Unlike current therapies that treat only symptoms, this strategy targets the root cause, offering the potential for a disease modifying treatment.
In the first phase of this research, they will test how effectively the AAV therapy delivers the therapeutic protein to muscle cells, using samples donated by patients with DM1. These experiments will help confirm that the therapy can be delivered efficiently and works as expected to stabilize the CTG repeats. In the second phase, they will test the therapy in a well established mouse model of DM1. They will evaluate its ability to stabilize the DNA in skeletal muscle tissues and assess whether it has any side effects to ensure the approach is safe. In the future, they plan to expand these studies to evaluate how the therapy works in other tissues affected by the disease, such as the heart and smooth muscle. They will also work to optimize the therapy for long-term safety and effectiveness, with the ultimate goal of advancing it into clinical trials. Click here to read more about Dr. David Housman and Dr. Christopher Ng.
Stéphanie Tomé, PhD
Research Associate
Sorbonne Université-Inserm UMRS974, Paris, France
Unfortunately, current methods for analyzing the genetic repeats in DM2 are limited. This makes it difficult to understand the relationship between genetic factors and symptoms, how the disease progresses, and what influences its severity. As a result, DM2 is not well understood, and the lack of clear links between genetic and genomic factors and clinical symptoms and disease progression complicates study design, hypothesis testing, clinical trials, genetic counseling, thereby offering little predictive information about the disease's course. The goal of the study, “Redefining the Genotype-Phenotype Paradigm in Myotonic Dystrophy type 2”, is to use advanced genome sequencing technologies to better study the repeat region (size and composition) and to understand how genetic factors are linked to symptoms in DM2. By analyzing data from a large group of DM2 patients, the researchers hope to improve diagnosis and prognosis, ultimately leading to better care and support for people living with DM2. Click here to read more about Dr. Stéphanie Tomé.
Arianna Tucci, MD, PhD
Clinician Scientist
Queen Mary University of London, England, UK
The study, “Myotonic dystrophy type 2: using genomics to understand frequency and expressivity of the disease”, aims to fill critical gaps in understanding DM2. First, by analyzing data from large population studies like the UK Biobank (500,000+ individuals), researchers will determine the frequency of the genetic mutation that causes DM2 across diverse groups. This analysis may also identify milder, misdiagnosed cases, including those classified as fibromyalgia, and reveal the true prevalence of DM2. Second, advanced techniques like long-read DNA sequencing will provide a detailed examination of DM2-related genetic changes, offering insights into disease variability. By integrating cutting-edge technology with large-scale genomic data, this study aims to improve DM2 diagnosis, recognition, and future treatment development. Click here to read more about Dr. Arianna Tucci.