Current Projects

Funding Dystonia Investigators

The ultimate goal of the Science Program is to support the discovery of improved therapies and a cure.

The DMRF is dedicated to stimulating the field of dystonia research and supporting the collaborations and projects necessary to accelerate progress. Each funded project addresses one or more of the core directions necessary to advance the dystonia field. These core directions include furthering our fundamental understanding of what dystonia is, uncovering the mechanisms in the nervous system that lead to symptoms, creating models of dystonia to use in experiments, and discovering targets for new and improved therapeutics designed specifically to treat dystonia.

Congratulations to our current award recipients, and infinite thanks to our supporters for making this research funding possible.

Research Grants & Contracts

Research grants are available in support of hypothesis-driven research at the genetic, molecular, cellular, systems, or behavioral levels that may lead to a better understanding of the pathophysiology or to new therapies for any or all forms of dystonia. Contracts provide the opportunity to direct research through the identification of specific, milestone-driven projects to be conducted by identified investigators and closely monitored by the DMRF’s Chief Scientific Officer.

New in 2026

Darius Ebrahimi-Fakhari, MD, PhD & Katerina Bernardi, MD
Boston Children’s Hospital


Dr. Ebrahimi-Fakhari’s research will study cAMP-related dystonias and how rare and severe childhood movement disorders are caused by genetic changes that disrupt communication between brain cells. Affected children experience uncontrolled movements, painful muscle contractions, and severe dystonic episodes, yet there are currently no disease-modifying treatments and few therapeutic options. This project will follow 100 children over two years to better understand how these conditions progress and to identify meaningful measures needed for future clinical trials. In parallel, researchers will create patient-derived brain cell models to study disease mechanisms and screen thousands of existing FDA-approved drugs to identify potential treatment candidates.

Dr. Darius Ebrahimi-Fakhari explains his latest research:

YouTube video

Ignacio Keller Sarmiento, MD
Northwestern University

Dr. Sarmiento researches how dystonia is a rare movement disorder that causes involuntary muscle contractions and abnormal postures, yet about 80% of cases still lack a known genetic cause. This project will use advanced computational and machine learning approaches to analyze brain gene-expression data and identify new genes that may contribute to dystonia. Researchers will then examine large whole-genome datasets from children with dystonia to find rare, potentially harmful genetic variants in these candidate genes. The goal is to improve genetic diagnosis, better understand disease mechanisms, and support the development of targeted therapies for affected children.

Dr. Ignacio Keller Sarmiento explains his latest research:

YouTube video

 

Continuing Projects

Martin Piazza, MD
University of Pittsburgh, Pittsburgh, PA

Dr. Piazza will research how families make informed decisions about deep brain stimulation (DBS) surgery for children with dystonia by addressing two key gaps: understanding how families weigh the benefits and risks of DBS and comparing its long-term effectiveness and costs to standard medical care. Ultimately, the research will provide better support for families, guiding them through complex decisions about their child’s care.

Dr. Martin Piazza explains his latest research:

 

YouTube video

Mariangela Scarduzio, PhD
University of Alabama at Birmingham, Birmingham, AL

Dr. Scarduzio seeks to further explain why somatostatin-expressing interneurons (SOMs) found in certain brain circuits in the striatum become highly active when dystonia-like symptoms are induced. By testing ways to control these cells, she hopes to better understand how to treat movement disorders like dystonia.

Dr. Mariangela Scarduzio explains her latest research:

YouTube video

Joaquim Alves da Silva, MD, PhD
Champalimaud Foundation, Lisbon, Portugal

Dr. Silva aims to introduce a new mouse model where repetitive training of a skilled task triggers dystonia, hoping to better understand the brain circuits involved and test deep brain stimulation (DBS) as a treatment. By studying brain activity during dystonia development in the new mouse model, this project hopes will shed insights into the condition’s mechanisms and uncover new pathways for therapeutic development.

Dr. Joaquim Alves da Silva explains his latest research:

YouTube video

 

Research Fellowships

Over the years, DMRF has created funding awards to support young investigators at different stages in their scientific training. Postdoctoral fellowship awards recognize and support outstanding young scientists who have earned a doctoral degree and have embarked on a period of mentored research.

DMRF is supporting postdoctoral fellows who are working to fundamentally improve our understanding of brain dysfunction and molecular mechanisms underlying dystonia.

New in 2026

Viviana Hernández Castañón, PhD Virginia Tech University Dystonia is a common movement disorder characterized by involuntary muscle contractions and abnormal postures, but its causes and early detection remain poorly understood. This project studies early brain changes using a mouse model in which some animals develop dystonia while others with the same mutation remain symptom-free. Researchers will record brain activity using electroencephalography (EEG) and track movement over time to identify patterns that predict when dystonia symptoms will appear. The goal is to discover early brain markers that could help doctors detect dystonia sooner and guide more effective treatments.
Dr. Viviana Hernández Castañón explains her latest research:
YouTube video
 
Nguyen Minh Thu Pham, PhD Yale University DYT1 dystonia is a childhood-onset movement disorder caused by mutations in the torsin protein, which disrupts how cells maintain healthy proteins. This research found that cells lacking torsin form harmful protein clusters, called condensates, that trap important quality-control factors and lead to cellular stress. Building on previous discoveries, this project will test how activating autophagy—the cell’s natural cleanup system—can remove these toxic condensates and restore normal protein balance. The work aims to identify new therapeutic targets and potential treatment strategies for dystonia.
Dr. Nguyen Minh Thu Pham explains his latest research:
YouTube video

Continuing Projects

Abigail Wilson, PhD
University College London, London, United Kingdom

Supported by the David M. Rudolph Fund

Dr. Wilson aims to find new drug treatments for patients with DYT-TOR1A dystonia. Using fly models with the same genetic mutation, she will test medications used for other disorders to see if they positively impact the dystonia symptoms. She hopes this will facilitate further therapeutic options for dystonia patients.

Dr. Abigail Wilson explains her latest dystonia research:

YouTube video

Alexander Hodge, PhD
University of Michigan, Ann Arbor, MI

Dr. Hodge intends to explore how changes in the neurotransmitters dopamine and acetylcholine in the brain’s striatum contribute to the development and severity of dystonia. By tracking real-time interactions between these neurotransmitters in mice with different dystonia-related mutations, the research will provide insights into how these chemical changes affect motor behaviors and may lead to dystonic symptoms. The findings could help identify specific targets for improving clinical manifestations of dystonia.

Dr. Hodge explains his latest research:

YouTube video

 

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