DMRF-funded Researchers Discover Latest Dystonia Gene

 

Congratulations to the team of researchers led by Laurie Ozelius, PhD at Mount Sinai School of Medicine for discovering the latest gene associated with dystonia. The GNAL gene is now the fourth associated with primary torsion dystonia, the symptoms of which may vary from focal to generalized, adult-onset or childhood-onset.

This discovery was made possible by collaboration among several movement disorders centers and over 20 years of partnering with affected families to collect samples and data. The movement disorders team at Beth Israel Medical Center led by Susan Bressman, MD played a major role in outreach to affected families, including working with the DMRF to advertise the need for volunteers through the Dystonia Dialogue newsletter and other media.

The DMRF is extremely proud to have partially supported this discovery. We extend our sincere thanks to all of you who support the DMRF and make it possible for us to fund essential research such as this. We’re also grateful to the 40+ families who participated in this study. The GNAL gene provides another clue along the trail toward improved treatments and a cure. And in the meantime, this discovery will lead to additional options to affected families in terms of diagnosis and identifying family members who may be at risk of inheriting the mutations associated with this gene.

DMRF’s in-house scientist, Dr. Jan Teller said of this discovery, “Every time researchers identify a gene, another piece of the puzzle falls into place to clarify our understanding of dystonia. The protein associated with the GNAL gene may hold important clues about how dystonia originates in the brain and potential new strategies for treatment.”

Many thanks to the researchers who contributed to this study and have given us the next piece of the dystonia puzzle. This latest discovery reflects the core of what the DMRF family is all about: researchers and affected families collaborating toward the common goal of better understanding dystonia and finding a cure.

Click here to read more about the GNAL gene discovery or go to: http://ow.ly/gdXHW

Gratitude

At this special time of the year we are given the wonderful opportunity to pause and reflect on what we have to be grateful for in our lives. I am grateful for the opportunity to serve this community. Dystonia is a lousy disorder – FULL STOP. The pain and limitations it brings to those who battle it every day are life changing.  Despite personal burdens, people in this community are incredibly generous in their willingness to talk with someone who has recently been diagnosed or who might be struggling and need to talk with someone who can truly empathize. We are a community with dedicated physicians, nurses, and other healthcare professionals who work tirelessly to improve the lives of those with dystonia. Our researchers are smart and passionate about their work, further inspired when they meet those who have dystonia – to forge ahead and advance our understanding of this neurological mystery. The DMRF Board of Directors, our local leaders, and staff are some of the most dedicated, selfless people I know. It is a privilege to be a part of the DMRF family. I am thankful for every member of this family and look forward to that time when we will all celebrate the achievement of our mission.

Battling Dystonia through Advocacy

An election year, with all the mud-slinging ads, has the potential to make us all a bit cynical about the democratic process.  However, the experience of dystonia advocates should make believers out of us.  The power of advocacy is clearly demonstrated through the work of the Dystonia Advocacy Network (DAN) organizations. This year alone the DAN has worked with other disease organizations on the important issue of changing the regulations allowing device companies with Humanitarian Device Exemptions (such as the company responsible for the hardware used in deep brain stimulation for dystonia)  to make a profit – critical to our attracting new companies to rare diseases. And this legislation has passed!  Our efforts to have dystonia included on this list of conditions eligible for application for federal funding of research continue, and this year dystonia has been included on the list emerging from the Senate!  This is now in a holding pattern because of the Federal budget situation and the Continuing Resolution – but this demonstrates the importance of dystonia advocacy.

We are now looking to have FDA be better informed about dystonia, and the DAN is inviting those affected by dystonia to share your story with the FDA through the patient-focused drug development initiative and help the FDA understand what our community wants relative to treatment. If you are interested, please go to http://dystonia-advocacy.org/actionalerts/ before November 1, 2012.

Advocacy is so important and it is a way to fight dystonia while our scientists battle it in the laboratories.  Please consider joining us for Advocacy Day next year scheduled for April 30 – May 1, 2013 in Washington, DC.  To learn more, please contact me at jhieshetter@dystonia-foundation.org

We have a great deal of work yet to do and we hope you will consider joining us next year.

Back to School

Many children have already started school, while for others today is their first day back. Regardless of when they started, the new school year is the focus of many families this time of year. The early days of a new grade are filled with hopes for how the year will go – what they will learn and what new friendships will develop over the next months. For those children who are dealing with dystonia, this time of year is also full of other thoughts – Can I keep up with the school work?  Will other kids make fun of me because of my dystonia? Will my treatments make it hard for me to concentrate and pay attention in class?

Parents worry about how their dystonia-affected child will manage the academic and social demands of a new school year. This can be a very anxious time for everyone. The DMRF is here to help those families.  A wonderful blog called Dystonia & Special Education (http://dmrfspecialed.blogspot.com/) is  authored by longtime DMRF member and parent, Roberta Senzel. The blog offers tips on knowing your child’s education rights, how to approach schools to request accommodations, and how to talk with a teacher about a child’s dystonia.

Additionally, the DMRF is proud to announce the availability of a new book for children written by Zak Weinstein and his mother Alyssa Dver titled, Never Look Down. Zak has dystonia and wanted to share his advice on how to manage life with the disorder. The book is a wonderful way to begin talking with a child about their dystonia. We are grateful to the reviewers:  Nutan Sharma, MD, PhD, Naomi Lubarr, MD, Anna Nolan, PhD, Jennifer Tuttelman, MS, and Jeffrey Weinstein, MS for their comments and assistance in developing this fabulous resource for kids and their families. If you are interested in obtaining a copy of Never Look Down for your child, email us at dystonia@dystonia-foundation.org

The DMRF is also ready to help connect parents with other families who have navigated the challenges a new school year brings to everyone. For example, if you are on Facebook, be sure to check out the closed group called Support4Parents of Children with Dystonia (https://www.facebook.com/groups/support4parents.dmrf/). Please know you are not alone out there. We stand ready to help.

Millie Munoz Inspired Everyone She Met

Dystonia robs a person of many things – the ability to control their own body, have a voice, control their day. As it has done with so many others, dystonia took many things from Millie Munoz.  But it never did take Millie’s zest for life, or her strong desire to help and inspire others. 

Sadly, Millie passed away on Monday, and while those of us who knew and cared deeply for her try to cope with this huge loss, we are in awe of Millie and all she did with her life. Millie was a dystonia advocate, working tirelessly to make sure that the dystonia community had what it needed.  She went to Washington, DC and met with members of Congress to educate them about dystonia.  She utilized the media to share her story so that others might better understand what dystonia is, and she worked with young people affected by dystonia to help them develop strong support networks and be educated about every aspect of dystonia. Millie was a frequent speaker at DMRF educational forums, often at her own personal health risk – pushing herself to travel so that she could participate. Millie touched everyone she met. 

You could not help but be swept up in her enthusiasm and optimism.  As another dystonia advocate said today upon learning of her sudden death, “I can’t imagine the world without Millie.”  Nor can any of us who worked so closely with her and who were honored to call her a friend. 

Our sympathies go out to her family and all who knew her. The sun shines less brightly because she is gone, but the world is a better place for her having been here, even for a short period of time.

DMRF Launches "20/30 Dystonia Group"

The DMRF’s amazing network of members and volunteers is one of the organization’s strengths. We are grateful for the feedback we receive from the community because your suggestions help us improve our programs. A request we heard loud and clear was the need for improved resources for individuals in the dystonia community ages 20-40, and especially an online forum to help people in this demographic connect with one another. The DMRF was proud to launch the 20/30 Dystonia Group this week, and have been very gratified by the positive response. Many thanks to volunteer administrators Marcie Povitsky and Ginny Bryan for welcoming people to the group and sharing their own experiences with dystonia to help support others.  And special thanks to Marcie for taking a leadership role in making this new Facebook group available.

Visit the 20/30 Dystonia Group at: https://www.facebook.com/groups/2030dmrf/

This is the newest of several Facebook groups the DMRF has created this year, and more are planned. Click here to access a list of all DMRF online resources.

Your phone calls, emails, social network postings, and mail are constant inspiration for the DMRF to do more, try harder, reach farther. Please continue to let us know how we can serve you better.

Dystonia Awareness Week, June 3-9, 2012

June 3-9, 2012 is Dystonia Awareness Week. Although promoting dystonia awareness is something the DMRF is devoted to doing year round, this week represents a special effort to rally all of us in the dystonia community to combine our efforts for maximum reach.

This year, the DMRF is using Dystonia Awareness Week to launch the Face2Face campaign. We’re encouraging individuals who have been impacted by dystonia to do what many of you already do: to share your story with the people in your everyday lives.  We encourage you to take a moment to educate your neighbors, acquaintances, friends at the dog park, wait staff at your favorite restaurant, tellers at the bank. The DMRF can provide simple materials to support you in this effort:  http://www.dystonia-foundation.org/face2face

Your dystonia story is a powerful instrument for awareness. Who can predict the lives you may change for the better by sharing your experiences and opening up about your or your loved one’s diagnosis?

Amy Behar and Silas Courson of Dallas used a backstage visit at a Flaming Lips concert to educate members of the band on dystonia. Val and Ernie Inman, leaders of the Tampa Bay Dystonia Support Group, created a “What is Dystonia?” QR code to help inform the tech savvy among us. We are impressed by the creativity of our volunteers to get the word out and educate the public about dystonia.

Please update us on your awareness efforts by joining a special Face2Face group on Facebook and sharing how you are promoting awareness: https://www.facebook.com/groups/face2facedmrf/ Don‘t be modest – we’d love to hear from you!

Thank you for your support. We appreciate each and every one of you.

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 www.dystonia-foundation.org/musicians

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.

Music’s Dirty Little Secret

The dirty little secret in some music circles isn’t what you might think. It’s not drugs, groupies, or feuding band members. It’s dystonia.

Although dystonia is considered a rare disorder, professional musicians clearly appear to be at increased risk. Experts have suggested that one in 200 musicians may develop dystonia over the course of his/her career.

Dystonia awareness among musicians has grown over the last decade, but it’s still a topic many affected performers find difficult to talk about publicly. Like individuals with other forms of dystonia, the loss of abilities that once were routine turns a musician’s life and career upside down. Prior to diagnosis, musicians often perceive early symptoms as the result of faulty technique or lack of sufficient preparation. Increasing practice or taking time off does not help, and the symptoms only get worse. Critics may suspect a performer has “lost his chops” or has a substance abuse problem because of uncharacteristically strained or imprecise playing. The fact that symptoms only occur when playing an instrument is one of the most frustrating and baffling aspects of the disorder—but it may also hold the key to better understanding how symptoms occur and how to effectively treat them.

The Dystonia Medical Research Foundation (DMRF) is proud to partner with Musicians With Dystonia to host the first ever Musician’s Dystonia Summit, March 9-10, 2012 in New York, New York. Musicians and researchers are gathering to discuss the latest information on musician’s dystonia, best treatment practices, and future scientific directions.

Musician's dystonia provides an opportunity to better understand all dystonias. There is a clear connection between the onset of dystonia and the intense and lengthy practice of difficult and skilled music over a long period of time. When researchers can “connect the dots” and figure out how this overuse leads to symptoms, this will be a huge breakthrough to better understand the dystonia disease mechanism—and therefore bring us one step closer to better treatments and a cure.

Many thanks to members of the planning committee who have worked diligently to build an outstanding agenda of speakers and bring this special meeting to fruition, including Mahlon DeLong, MD, Glen Estrin , Steven Frucht, MD, Mark Hallett, MD, Billy McLaughlin, and Jan Teller, PhD. We also appreciate the many musicians who are graciously donating their time to share their stories and talents at the Summit. See the DMRF website for a detailed agenda and information on how to register.