Current Research Investigations

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

To achieve this goal, the DMRF is dedicated to stimulating the field of dystonia research and supporting the collaborations and projects necessary to accelerate progress.

The DMRF is also devoted to attracting young, talented investigators who are becoming the next generation of leaders in dystonia research. In many cases, DMRF grant and fellowship awards are intended to help investigators gather enough preliminary data to make them eligible for much larger grants from agencies such as the National Institutes of Health.

The DMRF is proud to announce this year's exciting research projects, some of which are continuing from 2013. Each of these projects is meaningful because it addresses one or more of the core directions necessary to advance the field. These core directions include furthering our fundamental understanding of what dystonia is, uncovering the mechanisms in the nervous system that leads 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 this year’s award recipients, and infinite thanks to our supporters for making this research funding possible.

Stanley Fahn Awards

The Stanley Fahn Award is presented to young investigators who conduct groundbreaking dystonia research with a focus on improved treatments. The DMRF established this award in honor of Stanley Fahn, MD of Columbia University who has made visionary and lasting contributions to the field of dystonia.

“Regulatory RNA Networks in Inherited Dystonia” - 3rd year
Pedro Gonzalez-Alegre, MD, University of Iowa

“D2 Dopamine Receptor Signaling Alteration in a Mouse Model of DYT1 Dystonia: A Novel Rescue Approach” - 3rd year
Antonio Pisani, MD, Fondazione Santa Lucia, University of Rome

Research Grants and 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.

"Development of Novel Reagents to Augment Cholinergic Signaling in Dystonia"
Randy Blakely, PhD, Craig Lindsley, PhD, J. Scott Daniels, PhD, Vanderbilt University Medical Center

"A New Gene and A Novel Pathway Leading to Myoclonus Dystonia"
Dennis Bulman, PhD, Children’s Hospital of Eastern Ontario Research Institution

"Interactions of M4 and D1/Gαolf Signaling in Striatum: Implications for Treatment of Primary Dystonia"
P. Jeffrey Conn, PhD, Vanderbilt University Medical Center

“The Mechanism of Developmental Dysfunction in DYT6 Dystonia"
William Dauer, MD, University of Michigan

"Whole Exome Sequencing in Families with Myoclonus-Dystonia Syndrome without SGCE Mutations from Turkey and Germany"
Thomas Gasser, MD, University of Tübingen, Germany

"How Does the DYT1 Dystonia Mutation Alter TorsinA Function?"
Rose Goodchild, PhD, KU Leuven, Belgium

“Encoding of Interhemispheric Interactions in Mirror Dystonia: A Window to the Physiology of Dystonia” - 2nd year
Asha Kishore, MD, Sree Chitra Tirunal Institute for Medical Sciences and Technology, India

"Structural Characterization of Torsin1A with its Interactors at the Nuclear Envelope" – 2nd year
Thomas Schwartz, PhD, Massachusetts Institute of Technology

Cellular Screening Assay of RNAi in Dopaminergic Neurons Using Induced Pluripotent Stem Cells”
Chang-Hyun Song, DVM, PhD, Daegu Haany University, Republic of South Korea

“Evaluation of the Effects of a Novel Nicotinic Agonist, AZD1446, on Neurochemical and Electrophysiologic Endpoints in DYT1 Mouse Models”
David Standaert, MD, PhD, University of Alabama, Birmingham, Antonio Pisani, MD, University of Rome

Research Fellowships

Research fellowships are designed to assist post-doctoral fellows establish careers in research relevant to dystonia.

“Identification of Genetic Causes of Dystonia in a Homogeneous Population” – 2nd year
Kristoffer Haugarvoll, PhD, Haukeland University Hospital, Norway

“Targeted and Genome Wide Analyses of Factors that Modify TorsinA∆E” – 2nd year
Lucia Zacchi, PhD, Fundacion Instituto Leloir, Argentina

Accelerating Research & Inspiring Hope

The Dystonia Medical Research Foundation (DMRF) has served the dystonia community since 1976. Join us in our global effort to find a cure.