2011 Annual Research Grants



The Anti-Dystonia Drug Discovery Program, under the direction of Ellen Hess, PhD, Emory University School of Medicine, completed a second year of research studies to identify drugs that can either move directly into clinical trial or be put forward for product development by a bio-technology or pharmaceutical company. The drug screening protocol created in the first phase of development has transitioned to the testing of new compounds to alleviate dystonia symptoms in mice. The Bachmann-Strauss Foundation continues to fund this important project and is enthusiastic about the potential outcomes.


The Michel J. Fox Foundation received a second year grant for Dr. Danna Jennings, principal investigator, to explore the function of the neurotransmitter glutamate, and to evaluate the impact of glutamate antagonists, medications with the potential of reducing dyskinesia in Parkinson’s disease patients. This study has strong potential for developing novel medications that could benefit both dyskinesia and dystonia symptoms. Bachmann-Strauss has partnered with the Michael J. Fox Foundation for many years and continues to be their lead partner in the study of dyskinesia.




  • Joshua Berke, PhD
  • University of Michigan
  • Ann Arbor, MI


Real-time monitoring of striatonigral and striatopallidal cells in mice with levodopa induced dyskinesias

  • Prolonged levodopa therapy for Parkinson's disease frequently results in uncontrolled movements called levodopa-induced dyskinesias (LIDs). The brain changes responsible for LIDs are currently unknown. Using state-of-the-art techniques to monitor and manipulate individual neurons, Dr. Berke will test the hypothesis that one specific subtype of basal ganglia cell shows altered activity leading to LIDs. The results are expected to be extremely helpful for the generation of new therapies that either prevent or suppress LIDs.


  • Xandra Breakefield, PhD, and Naoto Ito, PhD
  • Massachusetts General Hospital
  • Cambridge, MA


Exploring the role of Dropsophila dtorsin gene in regulating dopamine metabolism

  • This study aims to clarify the role of torsin in dopamine metabolism by evaluating dtorsin-deficient flies that the researchers created. Because Drosophila (fruit fly) has one dtorsin gene similar to human DYT1, which is defective in early onset dystonia, the research should aid in evaluating the potential usefulness of drug modulation of dopaminergic neurotransmission in DYT1 patients.


  • Michelle Ehrlich, MD 
  • Mount Sinai School of Medicine
  • New York, NY


Regulation of TorsinA in a knockin model of DYT6 dystonia

  • DYT6 is one of the inherited dystonias, caused by one of several mutations that have been identified in the gene THAP1, which is present in the developing and adult mouse brain. This study will create a genetically accurate mouse model of DYT6, in which regulation and levels of THAP1 will be under normal control in order to determine if this mutation alters the regulation of other genes that are known to play a role in dystonia.


  • Phyllis Hanson, MD, PhD
  • Washington University School of Medicine
  • St. Louis, MO


Reversing the mislocalization of TorsinA

  • This study builds on Dr. Hanson’s discovery that localization is a property of TorsinA regulated in the cell and by earlier findings showing that TorsinA is frequently mislocalized. The new study will design a screen to identify new genes that regulate TorsinA activity by controlling where it is located in the cell, looking for new candidates and pathways that may be targets for therapeutic intervention in dystonia.


  • Christine Klein, MD

  • University of Luebeck
  • Germany


Application of next generation sequencing to identify a new dystonia gene

  • Using the genomes of a family with eight members affected by spasmodic dysphonia, the study seeks to identify a new dystonia gene by applying genome-wide linkage analysis and the latest sequencing techniques to be followed by mutational analysis of the newly identified gene in other dystonia patients. By identifying a novel genetic cause of dystonia, the study may explain many forms of the disease and lead to new therapies.


  • Antonio Pisani, MD

  • Fondazione Santa Lucia
  • Rome, Italy


Evaluating the Role of thalamic activity in the pathogenesis of dystonia

  • In his previous research into DYT1 dystonia, Dr. Pisani discovered a profound impairment in the synaptic plasticity of the striatum, a brain region involved in motor control. Dr Pisani now seeks to determine whether the aberrant synaptic plasticity of the corticostiatal pathway might lead to an imbalance with the other means of striatal cholinergic transmission, the thalamostriatal pathway. These experiments might have relevant implications for the pathophysiology of dystonia.


  •  Jan-Willem Taanman, PhD
  • Institute of Neurology
  • University College London
  • England


Converting laboratory-created stem cells into rapid-onset dystonia-parkinsonism neuronal cells

  • A major barrier to the study of dystonia and Parkinson’s in the laboratory has been the inaccessibility of neuronal cells from patients. Now that there is a new technique for creating stem cells, Dr. Taanman will attempts to convert stem cells into neuronal cells affected by rapid-onset dystonia-parkinsonism. This work can open the door to a thorough investigation of the disease mechanism of rapid-onset dystonia-parkinsonism and potentially screen for drugs.


  • Enrique Torre, PhD

  • Emory University School of Medicine
  • Atlanta, GA


The Impact of Mutant TorsinA on the Axon Function

  • More than 50% of carriers of mutant TorsinA never manifest early onset torsin dystonia (DYT1), but recent imaging studies suggest a deficit in the quality or number of fibers in the axon (the projection of a nerve cell that conducts electrical impulses away from the neuron’s cell body or soma). Dr. Torre will investigate the hypothesis that neurons become vulnerable to stress when expressing a mutated TorsinA, leading to a dysfunctional and/or or dystrophic axon unable to sustain normal synaptic communication or plasticity. These studies will help to understand the role of TorsinA in the normal function of axons and the connections they establish and to design better targeted treatments.


Aziz Ulug, PhD

  • The Feinstein Institute for Medical Research
  • Manhasset, NY


Determination of Brain Pathways Involved in Dystonia Using a Mouse Model

  • Employing a novel experimental approach to validate and expand upon the findings of the human imaging study conducted in DYT1 carriers of dystonia, Dr. Ulug will image DYT1 knockin mice in vitro and ex vitro in order to visualize the white matter pathways that pass through the abnormal brain regions identified in his earlier scans. This study will allow for the direct assessment of the effect of the DYT1 mutation on the structure and function of brain motor pathways.