Dystonia Medical Research Foundation: 30 Years of Promoting Research and Therapy Development

Abstract

Dystonia is a neurological disorder of movement. It is characterized by involuntary contractions of various parts of the body causing discomfort and pain and, in more severe forms, incapacitating the affected individuals. Although the exact cause of the disease in unknown, several forms known as primary dystonias are inherited. Other, secondary dystonias result from brain injuries or exposure to toxic drugs. Dystonia often accompanies other neurological diseases. In North America alone, more than 300,000 people are affected by this disease, making it the third most common movement disorder. Due to its nature, the psychological and social impact of the dystonias is enormous. It is estimated that the total annual cost to the national economy can be counted in billions of dollars.

Thirty years ago, in response to the growing and unfulfilled needs of the dystonia community, the Dystonia Medical Research Foundation (DMRF) was established. One of the major goals of the Foundation is to promote and support basic and clinical research into the causes and mechanisms of the dystonias. The Foundation also supports efforts which aim at discovery and development of novel treatments and therapies. Since its founding, the DMRF-funded researchers have made major discoveries in the field. These efforts culminated in 1997, when the first dystonia-causing gene, DYT1, was cloned. Genetic studies indicate that there are at least 14 other genes causing inherited forms of the disease. The implications of gene discoveries are obvious. TorsinA, the product of DYT1 gene, has been extensively characterized. The knowledge about its structure, cellular localization, interactions, and physiological function provides an opportunity to identify viable targets for drug development. To explore these exciting possibilities, the DMRF began funding research aiming at the development of novel therapeutic agents and established the Cure Dystonia Initiative (CDI). The major goal of the CDI is to accelerate the development of more effective treatments for dystonia with the ultimate goal of finding a cure. The CDI is envisioned as a bridge between basic and translational research. As the CDI is still at its early stages, several research groups supported by the DMRF have already begun testing promising drug candidates which target pathogenic genes and proteins. Faithful to its tradition, the DMRF is committed to support basic and clinical research, as well as therapeutics development.