Accomplishments & Milestones
Highlightsfrom Decades of Funding Science
Since 1976, the DMRF has funded over $37 million in research grants and awards.
- The Samuel Belzberg 6th International Dystonia Symposium was scheduled for June 2023 after postponement due to the Covid-19 pandemic. The Co-Chairs are H. A. (Buz) Jinnah, MD, PhD and Antonio Pisani, MD, PhD. The symposium is a joint organizational effort of Dystonia Europe and the Dystonia Medical Research Foundation.
- As of 2022, the Department of Defense Congressionally Directed Peer Reviewed Medical Research Program supported more than $20 million in dystonia research since 2010 due to the action of the Dystonia Advocacy Network, led by DMRF. For comparison, DMRF supported approximately $13 million in dystonia research in that same time period.
- DMRF partnered with Frontiers Media to launch Dystonia, the first scientific journal dedicated to dystonia. The journal brings visibility to the growing dystonia field and highlights advancements in science and clinical practice. Co-Editors-in-Chief are Aasef Shaikh, MD, PhD and Roy V. Sillitoe, PhD.
- 2021 saw a record number of dystonia studies appear in the medical literature with more than 1,200 publications.
- DMRF has helped train more than 30 movement disorder neurologists since 2011 through the Clinical Fellowship Training Program, addressing the need for additional dystonia experts in the US.
- The Dystonia Coalition, an international research collaboration of international investigators and patient organizations, was renewed for funding by the National Institutes of Health through 2024. In addition to serving as an administrative center for the Dystonia Coalition, the DMRF provides staff and office support to the Pilot Project Program, Career Development Awards, and annual meetings. Several representatives of the DMRF serve on the Dystonia Coalition Executive Committee.
- DMRF supported multiple Dystonia Coalition Career Development Awards to further support young investigators in the field.
- The Global Dystonia Registry reached 6,300 sign-ups form individuals with dystonia from around the world.
- Dystonia experts from across the world met for a virtual workshop, “Defining the Role of Brain Networks in the Pathophysiology and Treatment of Dystonia” (2021). The meeting’s distinguished Scientific Co-Chairs, Mark Hallett, MD, David Peterson, PhD, and Kristina Simonyan, MD, PhD led an intensive program to review what is known about the neural networks involved in dystonia, discuss emerging research, and identify research gaps. A manuscript is planned for publication in the DMRF’s scientific journal, Dystonia.
- Multiple DMRF-supported investigators made groundbreaking discoveries to understand TorsinA biology. These include William Dauer, MD; Phyllis Hanson, PhD; Rose Goodchild, PhD; and Antonio Pisani, MD, PhD. A protein in the brain called TorsinA is known to cause childhood onset dystonia when it cannot function properly due to genetic changes in the DYT1/TOR1A gene. This makes TorsinA a possible target for new treatment approaches.
- The Dystonia Coalition’s Natural History of Isolated Dystonia study to date recruited 3,200 volunteers with dystonia from all over the world—North America, Europe, the Middle East, Asia, and Australia. Studies led by Brian Berman, MD and past DMRF Clinical Fellows Scott Norris, MD using this data revealed important information about dystonia symptom progression.
- The Dystonia Coalition has produced more than 100 study publications in the medical literature, an impressive measure of the discoveries and advancements being made through this effort.
- Several research teams reported major advances in the development of new drugs to treat movement disorders including dystonia. In one pre-clinical study led by P. Jeffrey Conn, PhD and colleagues Aaron Bender, PhD and Jerri Rook, PhD, investigators identified several compounds that retain the beneficial effects of anticholinergic drugs like Artane® while eliminating side effects. Another research group led by past DMRF grant recipient and MSAC member Nicole Calakos, MD successfully corrected dystonic brain abnormalities in mice with a Food & Drug Administration-approved antiviral drug. These studies represent remarkable leaps forward in the effort to develop novel dystonia treatments.
- DMRF grantee and past MSAC member Jesse Goldberg, MD, PhD developed a groundbreaking new approach to studying dystonia and other movement disorders in mice.
- DMRF began dialogue with the Veterans Administration to bring visibility to the impact of dystonia on veterans and the urgent need for additional research.
- On average, two new dystonia studies are published every day—this represents a radical acceleration of activity compared to when the DMRF was founded in 1976.
- The Dystonia Coalition is a groundbreaking research collaboration that brought together an international network of investigators, movement disorder centers, and patient organizations. The overall goal is to advance the pace of clinical research for primary focal dystonia’s including cervical dystonia, spasmodic dysphonia, blepharospasm, and others. In addition to serving as an administrative center for the Dystonia Coalition, the DMRF provides staff and office support to the Pilot Project Program, Career Development Awards, and annual meetings. Several representatives of the DMRF serve on the Dystonia Coalition Executive Committee.
- Years of collaboration between the DMRF and Addex resulted in the announcement of a clinical trial to test dipraglurant in cervical dystonia. The study was developed with support from the DMRF and in collaboration with investigators from the Dystonia Coalition, an international network of experts devoted to advancing research in dystonia. H. A. Jinnah, MD, PhD, Director of the Dystonia Coalition and Professor of Neurology at Emory University, is the lead investigator.
- DMRF-funded investigators solved the structure of the dystonia-causing protein, TorsinA. At Massachusetts institute of Technology, researchers led by grant recipient and Medical & Scientific Advisory Council member Thomas Schwartz, PhD used crystallography to reveal the shape and structure of the TorsinA protein.
- The Food & Drug Administration’s Center for Devices and Radiological Health called upon the DMRF to help them better understand the role and impact of deep brain stimulation (DBS) as a dystonia treatment. The DMRF was represented by Chief Scientific Officer Jan Teller, MA, PhD and Support Leader Marcie Povitsky who met with Division Director Carlos Peña, PhD and his team.
- Executive Director Janet Hieshetter was invited to join Dystonia Coalition Director H. A. Jinnah, MD, PhD at the Rare Disease Clinical Research Network’s steering committee meeting to present the role of the DMRF as an administrative center as an innovative model for use in other disease research efforts. DMRF saved the Dystonia Coalition $1.8 million in administrative costs as of 2018.
- Working in partnership with an international committee of expert dystonia clinicians, the DMRF helped lead the effort to update the clinical definition and classification of dystonia. This led to a paper published in Movement Disorders: “Phenomenology and classification of dystonia: A consensus update.” Albanese A, Bhatia K, Bressman SB, Delong MR, Fahn S, Fung VS, Hallett M, Jankovic J, Jinnah HA, Klein C, Lang AE, Mink JW, Teller JK. Mov Disord. 2013 May 6. [Epub ahead of print]
- The Dystonia Coalition began funding pilot projects including the creation of a biorepository of samples available to dystonia researchers worldwide and new diagnostic tools for focal dystonia. The DMRF co-funded the Dystonia Coalition Career Development Awards to further support young investigators in the field.
- The 5th International Dystonia Symposium took place in 2011 in partnership with the European Dystonia Federation and Dystonia Coalition. This symposium was the most comprehensive meeting devoted to dystonia to date, representing a truly global interest in the disorder. The DMRF has organized International Dystonia Symposia since 1975.
- The DMRF’s ongoing research contract with BioFocus represents a ground breaking effort to discover new drug targets. Several hundred hits were identified against a library of 4,500 candidates; these hits represent proteins and genes that potentially can rescue cells from the effects of the DYT1 dystonia mutation. The DMRF and expert project advisors are analyzing the list of hits to isolate those that warrant further investigation. DMRF partnered with Tyler’s Hope for a Dystonia Cure on phase two of this project.
- Every year since 2010, the Department of Defense (DOD) included dystonia as a focus of its research program and funded multiple projects. Including dystonia in the DOD research program opened up a previously untapped source of funding for dystonia investigators.
- The DMRF hosted multiple scientific meetings including but not limited to Defining Emergent Opportunities in Dystonia Research in partnership with the National Institute of Neurological Disorders & Stroke (2018), Targeted Drug Discovery (2018), Emerging Molecular Pathways (2017), Myoclonus-Dystonia (multiple years), the Musician’s Summit (2012), Workshop on Designing Clinical Trials for Dystonia (2012), and Toward Novel Treatment Discoveries for Dystonia (April).
- Multiple dystonia genes were discovered by DMRF-funded investigators and/or researchers who served on the DMRF’s Medical & Scientific Advisory Council. Every gene provides a potential target for new therapies.
- Genetic and biochemical connections between various forms of dystonia discovered. TorsinA, a protein once only associated with DYT1 dystonia, is now implicated in focal and myoclonic forms. The protein THAP1 may be associated with cervical dystonia, blepharospasm, spasmodic dysphonia/laryngeal dystonia, and others.
- The DMRF continued to stimulate and support dystonia research and collaborate with other dystonia organizations.
- DMRF and National Institute of Neurological Disorders & Stroke (NINDS) organized two major workshops setting the research agenda for years to come: “From Gene to Function in Dystonia” (2001) and “Dystonia: Recent Advances and Future Directions.” (2006) The 2001 workshop brought together researchers with diverse backgrounds to address questions regarding the protein torsinA, its structure and function, and how the DYT1 mutation results in dystonia, plus examining current animal models and their utility to advancing dystonia research. The second workshop resulted in a Program Announcement calling for dystonia applications to NINDS, from which four major studies were funded to date on gender differences, rapid-onset dystonia-parkinsonism, proteins, and pathophysiology.
- In relation to the Program Announcement with NINDS, a Memorandum of Understanding established a public-private partnership between the DMRF and NINDS to support investigators whose applications were not funded through the National Institutes of Health because of budget limitations.
- Establishment of the Cure Dystonia Initiative marked DMRF’s formal commitment to translational research and to proactively engaging the pharmaceutical industry in developing new treatments. The Foundation continues to meet with companies to support bringing treatments to market and to encourage exploration of new compounds or repurposing existing agents for dystonia treatment.
- New dystonia genes discovered including DYT6 and DYT16. Every dystonia gene discovered provides another clue to the dystonia disease mechanism and points to another protein as a possible therapeutic target.
- DMRF workshops addressed increasingly advanced translational topics such as surgical advancements, cellular functions of dystonia proteins, and targeting specific brain pathways.
- Major meetings on dystonia held including 4th International Dystonia Symposium, which featured increasingly promising data on deep brain stimulation as a dystonia treatment. Deep brain stimulation is now considered the gold standard for treatment of severe forms of dystonia.
- DMRF launches a major scientific effort in partnership with BioFocus, nicknamed “Project FireSky,” to identify genes and proteins that will potentially modify the DYT1 gene mutation.
- A $6 million, five-year grant from the Office of Rare Diseases Research and National Institutes of Health was awarded to establish Dystonia Coalition, uniting pre-eminent clinicians and patient organizations in clinical research for new treatments. The DMRF played an essential role in securing the grant and serves as an administrative center to help investigators stretch funds as much as possible.
- DYT1 gene discovery for early onset dystonia led to new directions for research in terms of understanding the mechanism of dystonia and potential development of new treatments.
- 3rd International Dystonia Symposium featured increasing data on dystonia pathophysiology and genetics. Proceedings from each major scientific dystonia symposium are published as highly influential text books to serve as educational resources for young investigators and clinicians.
- The DMRF supported the development of the Dystonia Study Group to establish infrastructure for major clinical studies and the opportunity for clinicians to share their dystonia experiences and improve delivery of dystonia treatment.
- As the field of dystonia grew more sophisticated, DMRF scientific meetings began to focus on more specific areas of research allowing for discussion of new ideas and directions.
- Scientific Advisory Board (later renamed the Medical & Scientific Advisory Council) consisting of leading dystonia clinicians and researchers was formally established to review grant applications and engage top thought-leaders in the DMRF’s mission.
- DMRF established the first Dystonia Centers of Excellence in New York, Vancouver, and London. These pioneering centers provided expert care for individuals with dystonia.
- DMRF-funded research focused on clinical testing of medications, exploring use of botulinum neurotoxin, searching for suspected dystonia genes.
- 2nd International Dystonia Symposium expanded network of scientists and clinicians involved in dystonia research.
- Scientific Advisory Board (later renamed the Medical & Scientific Advisory Council) consisting of leading dystonia clinicians and researchers was formally established to review grant applications and engage top thought-leaders in the DMRF’s mission.
- DMRF established the first Dystonia Centers of Excellence in New York, Vancouver, and London. These pioneering centers provided expert care for individuals with dystonia.
- DMRF-funded research focused on clinical testing of medications, exploring use of botulinum neurotoxin, searching for suspected dystonia genes.
- 2nd International Dystonia Symposium expanded network of scientists and clinicians involved in dystonia research.
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