Dystonia is a neurological disorder in which the muscles contract and spasm involuntarily forcing the body into abnormal movements and awkward, contorted postures. Dystonia causes varying degrees of disability and pain severely affecting an individual's quality of life and impacting a growing number of individuals in the United States and worldwide. During the last ten years substantial research progress has been made that """"""""re-defined"""""""" numerous forms of dystonia in genetic and biochemical terms. Although pathophysiologically the dystonias are considered """"""""circuit"""""""" disorders, identification of gene mutations in familial dystonias points to specific molecular pathomechanisms and potentially enables targeting cellular and biochemical with pharmacological agents. Despite this progress there is an urgent need to """"""""translate"""""""" basic and clinical research results into therapeutics development. The goal of this project is to organize a workshop dedicated to the translational aspects of dystonia research. The proposed meeting will bring together key individuals actively involved in genetic, cellular, physiological and clinical research on dystonia to discuss existing and potential possibilities for accelerating the transfer of recent basic science findings to clinical practice. The major outcomes of the proposed meeting will be: a) arriving at a consensus position regarding the acceptability of identified molecular targets for dystonia drug development and additional research avenues necessary to provide """"""""proof of concept"""""""" for each target; b) identification of research areas that need to be supported in order to develop more solid scientific basis for target validation; c) identification and evaluation of the current status of translational dystonia research; d) identification and recruitment of researchers with the potential to creatively contribute to the translational efforts; e) identification and critical evaluation of mechanisms needed to accelerate translational discoveries and implementations; f) identification of dystonia patients' therapeutic needs and assessment of clinical relevance of current and future translational studies.
The importance and relevance of this project stems from the fact that dystonia is considered the third major movement disorders affecting hundreds of thousands of Americans and that there is no cure for this disease. Moreover, dystonic symptoms are prevalent among patients suffering from other major neurological disease: Parkinson's disease, Huntington's disease, and many others. Advancing translational research in this field is desperately needed to facilitate and speed up therapeutics discovery. ? ? ?
