Wednesday, March 14, 2012

Musician's Dystonia Summit a Great Success

The Musician’s Dystonia Summit that took place this past weekend was the very first event of its kind. The Summit was made possible by sponsorships provided from Allergan, The Medtronic Foundation, Merz, and Jack and Nancy Britts. The DMRF has been funding research on musician’s dystonia for many years, and this event provided an historic occasion to stop and review what the research is telling us and what we need to do next to accelerate improved treatments. The Summit also provided an important opportunity for affected musicians to meet and exchange information. Some of the discussion became very emotional as participants shared the depth of how dystonia shattered their careers and livelihoods—not an uncommon experience for people with all forms of the disorder. We extend our deep appreciation to the musicians who shared their stories and the researchers and physicians who are working tirelessly to meet the needs of this community.

The DMRF was proud to honor Musicians With Dystonia founders Glen Estrin and Steven Frucht, MD for their years of service to the musician’s community. Many thanks for their essential role in bringing the Musician’s Summit to fruition. (Glen and Dr. Frucht are pictured here with David Leisner.)

Many thanks, also, to the performers who shared their talents Friday evening for a spectacular concert by David Leisner, The Fiddling Thomsons, and Billy McLaughlin joined by a quartet including Steven Leung, Dr. Frucht, and Dr. Frucht’s amazing daughters.

New York Times reporter James R. Oestreich covered the Musician’s Summit in today’s issue. Click here to access the article.

Research on musician’s dystonia will help scientists better understand all dystonias. Scientists are challenged to connect the dots between the intense, repetitive practice of specific fine motor movements and the onset of symptoms – this will reveal fundamental information about how and why dystonia occurs.

For more information on musician’s dystonia visit the DMRF website at

Friday, March 2, 2012

Building the Bridge

Bridge funding is an important way to keep investigators working in dystonia while they await the support decisions of National Institutes of Health (NIH) or other funding sources. This type of funding is particularly important during these challenging economic times. The DMRF was pleased to provide bridge funding for Naoto Ito, PhD in late 2010, and we are now very pleased to learn that Dr. Ito has received funding through the Peer Review Medical Research Program (PRMRP) administered by the Department of Defense (DOD). The public abstract for his PRMRP project is listed below. We congratulate Dr. Ito and his collaborators on this award.

We want to thank the DMRF donors who have supported our research efforts that allowed the Foundation to provide this important bridge funding and maintain his project. We also want to thank and congratulate the many Dystonia Advocacy Network advocates who worked so hard to have dystonia included on the list of eligible conditions for the DOD research program. We look forward to good things coming from this research, which is creating a fruit fly model of dystonia that may eventually be put to use for validating new therapies.

Public Abstract
"A Novel Locomotion-based Validation Assay for Candidate Drugs Using Drosophila
DYT1 Disease Model"

Dystonia is the third most common movement disorder in humans and can be caused by hereditary factors, brain trauma, and psychiatric drugs. DYT1 is the most severe and common form of hereditary dystonia caused by a mutant protein torsinA. There are no good model systems currently available for quickly validating the potential for candidate drugs that focus on muscle movement of whole animals as an indicator. We propose here to develop a novel mobility-based system for testing potential dystonia drugs using Drosophila model system.

The fruitfly, Drosophila, has a single torsin-related gene. Recently fly lines that lacked Drosophila torsin gene have been created, which exhibited slower mobility. These defects could be rescued by the introduction of the normal human torsinA gene into flies, demonstrating that the locomotion functions of torsin genes are conserved between human and Drosophila.

We will create a model system expressing abnormal human torsinA proteins as functional torsin proteins. We expect that the mutant form of human torsinA (ΔE) will interfere with the normal function of human torsinA and lead to a decrease in larval mobility. We will add drug candidates to the food where the larvae grow and determine which drugs can restore the mobility to a normal level. This system will give us rapid way of accessing the effects of drugs on the mobility defect caused by the torsinA mutation. We will also use a set of fly lines expressing inhibitory RNAs for different genes to identify additional proteins that affect dystonia-related fly mobility.