DMRF Research Awards Advance Understanding of Dystonia

The Dystonia Medical Research Foundation (DMRF) has announced the latest research grant and fellowship awards to advance progress toward improved dystonia treatment options and ultimately a cure. Dystonia is the third most common movement disorder, affecting approximately 250,000 Americans and potentially millions worldwide.

“The pace of dystonia research has been accelerating faster and faster, and the DMRF is proud of its contributions to keeping this momentum going,” said DMRF President Mark Rudolph. ”It’s gratifying to see a new cycle of research projects announced and to anticipate the important new discoveries we can expect from these outstanding investigators.”

The DMRF supports research aimed at expanding the knowledge of the genetic, molecular, physiologic and pathologic basis of dystonia. New grant awardees are as follows:

GABA abnormalities and stability in cervical dystonia
Brian Berman, MD, Virginia Commonwealth University
The goal of this study is to understand the neurobiology of cervical dystonia and the role that the inhibitory neurotransmitter GABA plays in the disorder.

Protein Kinase R dysfunction in dystonia
Stephanie Moon, PhD, University of Michigan
This project aims to understand why changes in a protein linked to dystonia affect neurons in normal and stress conditions, hoping to identify new drug targets to develop treatments.

Molecular mechanisms of dysmyelination in dystonia
Dhananjay Yellajoshyula, PhD, University of Michigan
White matter abnormalities in the brain contribute to dystonia, and this investigation will explore the cellular mechanism by which a specific genetic mutation may lead to such abnormalities.

The DMRF is committed to supporting young investigators pursuing dystonia-focused research through research fellowships and to supporting the training of clinicians to improve treatment experience through the clinical fellowship program. New research fellowship awardees are as follows:

Beyond Theta: Analyzing oscillations across the frequency spectrum in patients with dystonia implanted with sensing-enabled pulse generators
Stephanie Cernera, PhD, The Regents of the University of California, San Francisco
This study will examine individual patients’ brain signals while they are performing different movements and use what is learned to improve therapeutic deep brain stimulation outcomes.

A two-hit hypothesis: Cerebello-thalamo-striatal connectivity and dysfunction in DYT dystonia
Lauren N. Miterko, PhD, University of Texas Southwestern
This project is testing a new hypothesis that dystonia results from a combination of genetic mutations and circuit dysfunction. The goal is to identify and characterize neural circuits that cause motor abnormalities during brain development.

Investigating sensory dysfunction in a mouse model of early-onset, generalized dystonia
Amanda Pocratsky PhD, University College London
Normal sensation is essential for motor control, and its dysfunction is clearly implicated in dystonia. Results of this study will provide key insights into the underlying biological mechanisms of sensory dysfunction in dystonia.

One new clinical fellowship was awarded:

Jun Yu, MD
University of Florida
Mentor: Michael Okun, MD

In 2022, the Clinical Fellowship program is supported by grants from Ipsen and Merz.

Dystonia is a chronic, often disabling, neurological disorder marked by excessive involuntary muscle contractions that cause abnormal body movements and postures. Common signs include abnormal movements of the head and neck, excessive blinking, a breathy or choked-sounding voice, hand cramps, or a twisted foot. Because dystonia is not better known, symptoms are often mistaken for signs of mental illness, substance abuse, or poor social skills. Dystonia impacts people of all ages and backgrounds. There is not yet a cure. Although treatments exist there is not yet a single therapy that benefits even a majority of patients.

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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.