Dystonia is a movement disorder characterized by excessive muscle contractions that cause abnormal movements and postures. Dystonia is not caused by pathology in a specific brain structure, but by dysfunctional circuits of communication between multiple brain areas responsible for coordinating and controlling body movement. Despite substantial progress made in understanding various aspects of dystonia, there is a need for greater understanding of the basic mechanisms of dystonia and implementing existing knowledge into clinical practice. To accelerate development of novel approaches and transformative research, the DMRF supports studies that will fundamentally change our understanding of brain dysfunction in dystonia as well as innovative clinical studies that capitalize on current progress in the field. Three such new grants were awarded in 2020.

Continuing grants from 2019 reflect studies to explore dystonia brain circuits and networks. These awards are part of an ongoing effort to push the envelope of what is known about dystonia by funding innovative research projects with a focus on incentivizing collaborative, cross-disciplinary investigations. Two projects in the current grant cycle to date were renewed for second year funding.

Genetic Modifiers of Penetrance in DYT1 Dystonia
David Arkadir, MD, PhD
Hadassah Medical Center and Hebrew University of Jerusalem

Unraveling Hierarchical Network Loops in Isolated Dystonia (2nd year)
Xin Jin, PhD
Salk Institute for Biological Studies
Supported in collaboration by Cure Dystonia Now and Benign Essential Blepharospasm Research Foundation

The Role of Cholinergic Neurons in Isolated Focal Cervical Dystonia
Scott Norris, MD
Washington University School of Medicine

Cholinergic Interneuron Dysfunction in a Phenotypic Mouse Model of Dystonia
Mariangela Scarduzio, PhD
University of Alabama at Birmingham

Interregional Brain Connectivity in a Mouse Model of Cerebellar-Induced Dystonia (2nd year)
Roy Sillitoe, PhD
Baylor College of Medicine
Supported in collaboration by Cure Dystonia Now

Click here for summaries of each project.

The Dystonia Medical Research Foundation is a 501(c)(3) non-profit organization dedicated to advancing research for improved dystonia treatments and ultimately a cure, promoting awareness, and supporting the well-being of affected individuals and families.