Fighing for a New Independence

The 4th of July is our national holiday that commemorates our independence, giving generations that followed all the freedoms afforded us through this democracy.  As we plan for the holiday, it is so important to remember that those who are affected by dystonia do not have all freedoms others enjoy – they have been robbed of the basic freedom to move, to control their bodies.  Like the signers of the Declaration of Independence, we too are fighting for a revolution: battling this disorder in order to restore the freedom to move.  We will not stop until we can claim victory!  Many are engaged in this battle.  Those who live every day with the pain and limitations dystonia brings are joined by many allies: researchers across the globe who are working every day to better understand the mechanism of dystonia so we can stop it at its origins and to find treatments, families who are working so hard to make life better for their loved ones, and friends who would do anything to advance our cause.  On this 4th of July, we salute you all for sharing your stories to raise awareness of dystonia, to everyone who is a source of comfort and support for persons living with dystonia, and finally to the researchers who are getting us closer to a new independence.  Enjoy your holiday and never forget – our work continues.

 

Happy New Year

2012 was a year of many achievements: research advancements, the launch of the DMRF’s clinical fellowship program, success in our legislative efforts, and thousands reached through our education and support programs. As we look ahead to the New Year we are filled with hope for what it will bring our community. We are inspired to continue to aggressively push forward for more scientific breakthroughs and more awareness and recognition of dystonia. We will not rest until our mission is achieved, and we cannot do it alone. We are united in our shared goal of ending dystonia. Last year saw the DMRF family pull together to meet a challenge grant from an anonymous donor to raise an additional $110,000 for our critical research program--which led to a total of $210,000 when matched by the donor. Words cannot express how grateful we feel to our leaders, our donors, our advocates and everyone who has worked to support someone in the DMRF community this past year.

On behalf of the DMRF Board of Directors, staff and for myself, I wish everyone a happy, healthy 2013.  We look to shatter all expectations for scientific advancements, dystonia awareness, and support of those affected by dystonia and their families this coming year. Let’s get to it!

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.

Volunteers Needed for Global Dystonia Registry

The DMRF is proud to be a part of a two-year effort to develop and implement the first-ever patient registry devoted to focal dystonias. The registry is designed to collect data on persons affected with a focal dystonia(s) to assist in clinical research efforts including clinical and research trials.

This collaboration is between dystonia patient organizations and the research leaders of the Dystonia Coalition to develop and offer this self-reporting patient registry to the dystonia community. “The registry is a fantastic new opportunity for the dystonia community worldwide. It is going to be extremely valuable for fostering better communication between people who are affected by dystonia and researchers who are trying to learn more about dystonia,” said Dr. H. Jinnah, the principal investigator for the Dystonia Coalition. The goal of the registry is to support future dystonia studies through the collection of data on persons affected by dystonia.

Although the focal dystonias have many different manifestations, most experts believe they share a common pathogenesis or mechanism that causes the disorder. The common causes may be a similar gene defect, similar lifetime experiences, or both. Collecting information from different patient populations may help us identify the common features that they may share. This Registry compliments the current scope of research for the Dystonia Coalition, a National Institutes of Health supported clinical research effort.

To learn more or to register with the Global Dystonia Registry go to: http://www.globaldystoniaregistry.org/

35 Years of Dedication

At the Foundation’s annual meeting last month, we recognized 35 years of dedication to achieving our goal of a cure for dystonia, 35 years of stimulating research, promoting awareness and providing support for dystonia-affected persons and their families. The meeting was productive and we look forward to announcing the grants we will be funding this year and to providing a report on the progress we have made over these past three decades toward achieving our goal.

Throughout the meeting I was struck with the dedication of every person there. The members of our Medical and Scientific Advisory Council, people who are incredibly busy, but who gave us their time to thoughtfully review and discuss the merits of the grant and fellowship applications. There were our recently funded investigators who presented on their research and then engaged in discussions regarding where best to direct research to advance our knowledge. The Foundation’s Board Members – people who work tirelessly to provide financial support and guidance so the DMRF can be there for those who turn to us for information, support and help. We were fortunate to have a number of guests, people who have made significant contributions to the field by reviewing grants through the Department of Defense Peer-Reviewed Medical Research Program or who have worked hard to create dystonia awareness and lead support groups. We were pleased to welcome Fiona Ross, the Chairman of the Board for the Dystonia Society in the UK – reflective of the communities desire to work collaboratively if we are to be successful in battling dystonia.

Many of these people have been there from the very beginning – and they reiterated that they are not going anywhere until we reach our goal of a cure. The anniversary provided the DMRF with the opportunity to acknowledge the extraordinary people who have been with us on this journey. People who have worked selflessly to help us end dystonia. We recognized these amazing individuals with the DMRF Distinguished Service Award.

It is my honor to announce that the DMRF Distinguished Service Award was given to the following people:

Stanley Fahn, MD - Mark Hallett, MD
Mahlon DeLong, MD - Xandra Breakefield, PhD
Laurie Ozelius, PhD - Susan Bressman, MD
Samuel Belzberg - Frances Belzberg
Dennis Kessler - Rosalie Lewis
Joseph Jankovic, MD - Claire Centrella

We thank each of these wonderfully dedicated people for their commitment to the DMRF and the dystonia community. The DMRF continues its work. Our commitment to the community remains steadfast. The DMRF is not going anywhere until we achieve our mission.

Good News

It seems hard to believe that we are already in the middle of January. The holidays are nothing but a faint memory now – hope your season was a good one. I want to thank everyone for their hard work and support last year. We could not do what we do without you and your efforts have helped us off to a great start in this New Year.

The first good bit of news is that two dystonia researchers have been funded through the Department of Defense Peer-Reviewed Medical Research Program. Cris Bragg, PhD (pictured) and Kathleen Sweadner, PhD will receive funding for their work through this program. We offer our congratulations to them and to the many Dystonia Advocacy Network volunteers who have worked so hard over the past many years to get dystonia included on the list of eligible disorders so that our researchers could apply for this funding. We are also able to begin the year with gratitude to the Centers for Medicare and Medicaid Services for issuing a temporary billing code for the recently approved botulinum toxin, type A, Xeomin®. This means that dystonia-affected persons will have access to all FDA approved treatments because now doctors who might have been reluctant to use this new treatment because of potential billing hassles will have those hassles removed. We want to thank the CMS staff for their receptivity to hearing the patient’s perspective on this issue and again thank the DAN volunteers who made visits to Members of Congress in August and who went to CMS to provide personal testimony. The collaboration of the DAN organizations is to be celebrated as we are moving forward to meet the needs of those affected by dystonia.

A Year of Progress

A year of progress, 2010 has taken us important steps closer toward the Foundation’s mission of supporting research that will lead to a cure, education and dystonia awareness, and those individuals affected by dystonia and their families. The DMRF is proud of the work we have done these past 12 months, and we thank our many volunteers, advocates, donors and our local and national leaders. We have achieved all we have in 2010 because of the support of these remarkable people.

This year, we continued our commitment to funding of cutting edge-research and fellowships and approved 15 research projects. The Foundation’s Science Officer worked with another 5 investigators to develop contracts that will help us fill in some of the missing pieces of this big dystonia puzzle. The DMRF is pleased to partner with the Foundation for Dystonia Research to support a better understanding of dystonia. The DMRF is also pleased to partner with Tyler’s Hope for a Dystonia Cure in supporting phase II of the BioFocus project, an important scientific research project that is designed to identify and validate potential targets, that will hopefully lead to drug development for DYT1 dystonia. Our work in serving as an administrative center for the Dystonia Coalition, an NIH sponsored clinical research project, continues.

The DMRF has been honored to work with the Dystonia Advocacy Network (DAN) for the past five years. Joining with members of the Benign Essential Blepharospasm Research Foundation, the National Spasmodic Dysphonia Association, the National Spasmodic Torticollis Association and DySTonia, Inc., we have worked to make sure the legislative and policy needs of the dystonia community are heard in Washington, D.C. This past year, DMRF President, Art Kessler, provided testimony to the FDA and longtime DMRF leader, Kathy Rentfrow, provided testimony before the Senate Defense Appropriations Subcommittee regarding dystonia research funding. The DAN has worked to ensure that all patients have access to all approved treatments for dystonia and just last week met with key individuals at the Centers for Medicare Services regarding this issue.

We welcomed new support groups to our network of local resources working tirelessly to make sure people know they are not alone in this battle. Our regional meetings helped to provide education and connect people with one another.

Our commitment to our mission remains resolute, and we look forward to continuing our progress into 2011.

But we always remember that we can’t do it without you. Thank you for all you have done this past year. I wish you and your families all the best in the New Year ahead.

Why not?

For nearly 35 years, the DMRF has been asking questions of our researchers, pushing them for scientific answers and always moving forward with a “can-do” attitude. At first, it was an uphill battle – trying to convince researchers that this was a field worthy of their time and energy. Recently, we have seen more activity and enthusiasm around dystonia research, more information and more progress. This is all to be celebrated by everyone in the dystonia community! We want you to know that the DMRF continues to push – asking ourselves, “Why not?” Why shouldn’t we take what we now know and push the science further to see what we learn? This is why the Foundation is taking the next step with a major project that we hope will lead to identifying proteins that modify the DYT1 dystonia phenotype. The concept is to use a genetic approach based on silencing selected genes and monitoring the effect of such silencing on torsinA function. This is a high-risk project, but the Foundation feels strongly that it needs to be done as it may possibly lead to potential drug targets and, eventually, to new treatments. Our Science Officer, Dr. Jan Teller, will manage this pioneering new project. This phase of the project began this week, and will continue through the Spring of 2011. We are very excited about this work. Look for a formal announcement in the next week, but we wanted to let you know early about this one way in which the spirit that founded DMRF – pushing for action and answers -- continues today.

Happy New Year from the DMRF

On behalf of the DMRF I want to wish everyone a Happy New Year. We are looking forward to continuing the momentum that the events of 2009 generated into 2010. There is much to be grateful for as we look back at the milestones from last year.

• The wonderful research projects supported by the DMRF in 2009. We are beginning to receive progress reports from the work funded by the Foundation last year and it is exciting to see results. We are always pleased with our fellowships – funding young investigators is so important.

• Working in partnership with the Foundation for Dystonia Research, the DMRF launched a $1.8 million dollar research contract to identify and validate novel molecular targets for dystonia drug discovery and development. This project is possible because of the many years of research the DMRF has supported – including the DMRF funded discovery of the DYT1 gene in 1997. The first phase of this enormous scientific project was completed in 2009.

• Additionally, the DMRF is contracting for the development of a new animal model for dystonia. This is also important for drug discovery/development.

• DMRF continues to hold discussions with pharma to engage them in dystonia. In 2009 a significant meetings were held and we are optimistic about the interest expressed in dystonia – developing into additional, new treatments for dystonia.

• DMRF was pleased to join with Tyler’s Hope in launching a patient registry for DYT1 dystonia – another important element in getting new treatments on the market.

• Our scientific meetings continue to be important. Last year, the DMRF hosted a meeting for young investigators, a meeting on myclonus dystonia and a number of other meetings to help support the development of the NIH/ORD Dystonia Coalition program.

• The Children & Family Symposium was a major success – with many new families learning that they are not alone. This combined with our ongoing educational efforts and the fabulous support/education efforts of our support groups has provided accurate information to thousands of people.

• The Dystonia Coalition – the clinical research program approved by NIH is a major step forward for the community. The DMRF is proud to serve as an administrative center for this important program – providing administrative support for meetings, payments to the clinical sites, pilot projects and this past year, to have co-sponsored the Career Development Award.

• Last – but certainly not least – we are grateful to join with our advocacy partners the Benign Essential Blepharospasm Research Foundation, DySTonia, Inc., the National Spasmodic Dysphonia Association and the National Spasmodic Torticollis Assocition in celebrating the addition of dystonia to the list of eligible diseases for funding through the Congressionally Directed Medical Research Program. This was a wonderful way to end the year.

2010 looks to be a year of continued progress. The research grant applications recently submitted look good – these will be reviewed in February when our Medical & Scientific Advisory Council will be meeting. We will be launching new scientific exploration through our contract program and look forward to sponsoring and participating in key scientific meetings throughout the year.

We also look forward to continuing our community education programs, webinars, a western regional meeting and another successful Advocacy Day this spring.

Achieving our goal of a cure for all forms of dystonia can’t be done alone. We appreciate the partnerships we have globally and thank all of you for your support of the DMRF. We look forward to sharing with you the progress of the coming year and to hearing from you about how we can help you until that wonderful day when our work is finished.

Myoclonus Dystonia Meeting

Pictured above from left to right: Thomas Gasser, MD, Marie Vidailhet, MD and Susan Bressman, MD

This past weekend the DMRF hosted a meeting on myoclonus dystonia, a form of dystonia with symptoms that include rapid jerky movements, alone or in combination with the sustained muscular contractions and postures. We were fortunate to have the leadership of Drs. Susan Bressman and Marie Vidailhet in developing the agenda and bringing together the best faculty in the world to discuss the status of myoclonus dystonia research, clinical and basic, and to develop a plan for keeping the momentum of progress moving forward. Joining the DMRF for this incredible meeting was esteemed researchers from France, Germany, Italy, the Netherlands, the United Kingdom, Canada and the USA. The agenda included a review of genetics, imaging and neurophysiology, therapeutics, and animal models with a discussion on future directions.

In summarizing the meeting, Dr. Bressman said this was the best workshop she had been involved in for many years. We felt the same way – the energy, the enthusiasm and the spirit of collaboration was amazing and we look forward to implementing the plan for attacking myclonus dystonia.

Having these kinds of meetings is an important part of the DMRF’s scientific strategy – implemented and operated by our full time Science Officer, Jan Teller, PhD, and our Medical and Scientific Director, Mahlon DeLong, MD of Emory University. Supporting research, awarding fellowships and contracting for specific scientific work is very important but so too are these meetings when we are able to bring great minds together to discuss a specific topic and develop next steps.

We are so thankful to all who participated in the meeting and to everyone in the dystonia research community for their dedication and commitment to ending all forms of dystonia.

The DMRF: A Critical Piece of the Dystonia Puzzle

Starting a scientific career is a daunting proposition, especially for a physician-scientist that has clinical as well as lab responsibilities. Yet, it is physicians who witness first hand the struggles of patients, and this knowledge can be a powerful motivator for scientific discovery -- even when the underlying science is unknown and therefore “off the radar” of basic investigators.

The DMRF has provided essential support to my scientific career, both at the critical early stage, as well as at later stages. Shortly after the gene encoding torsinA was discovered, I received a grant from the DMRF to generate torsinA mutant animals. This grant - to a young and untested physician-scientist – was helpful in supporting the work but, perhaps as importantly, gave me an early track record of securing funding and was therefore helpful in me getting other grants, both from the Howard Hughes Medical Institute as well as the NIH. The ongoing support of the DMRF also enabled me to hire and support Rose Goodchild, an outstanding young scientist who now has an independent lab of her own (studying torsinA). Moreover, the DMRF has consistently organized and supported basic science and clinical workshops that have been invaluable in helping to integrate and focus the dystonia research community. I have found these meetings invaluable, both scientifically and as a place where trainees in my laboratory (and others) can begin to present their work and develop confidence as scientists. The DMRF has consistently focused on identifying and supporting the best science, and I’m convinced that we’d be far, far further from our goal of improving the treatment and hopefully cure of dystonia without the many valuable DMRF-supported activities.

Guest Blogger:

William Dauer M.D.
Elinor Levine Associate Professor
Neurology & Cell and Developmental Biology University of Michigan Medical School

Would you like to know more about DMRF grant funding opportunities?
http://www.dystonia-foundation.org/pages/funding_opportunities/142.php

The deadline for all applications is December 15, 2009. Visit http://www.dystoniagrants.org to view the application form.

Dystonia Researchers

Pictured above are Rose Goodchild, PhD, University of Tennessee and Cris Bragg, PhD, Massachusetts General Hospital

Attracting and keeping smart, dedicated young researchers is really important. Recently the DMRF hosted a meeting of young investigators, bringing together some of the brightest young dystonia researchers to talk about dystonia research and how best to support their work. We wanted to hear from them as to the challenges and opportunities they are experiencing – and how they thought the Foundation could best help young dystonia scientists. We also wanted their ideas on new, perhaps innovative ideas for DMRF research support. It was a very productive meeting with a great exchange of ideas for how we can move forward into 2010 and beyond.



This week the Society for Neuroscience is meeting in Chicago. This is an amazing meeting and in the past few years – dystonia has been present in poster sessions and talks. Having a dystonia presence at this meeting is an accomplishment for all to celebrate. DMRF, along with NSDA, had a booth at the meeting – giving us the opportunity to further promote dystonia at this meeting.



Last evening the DMRF hosted an event where we brought together many members of the dystonia research community – senior level investigators with younger investigators – all talking about what is new in dystonia research, what steps we should look at next and the progress that has been made in the last few years. It was wonderful to see the dialogue between these generations of dystonia researchers, to witness the established investigators encouraging the thoughts and ideas of those investigators beginning their careers.

Growing garden...

My family and I traveled to Michigan over the weekend. While there I had the opportunity to catch up with a long-time friend who owns and operates his family farm. He told me about the challenges of a Midwest spring in getting all of the planting done, how the selection of seed can make a huge difference and the long hours involved. Even once it is all completed there is so much that will influence the harvest – things like the weather that you have no control over and the chance the seeds don’t have the desired yield. There’s a lot of hard work and patience involved, but when the time is right and everything comes together, the yield can be amazing.


This is not unlike medical research. The DMRF works with our fabulous scientific advisors and puts forth great effort to identify the right projects and investigators to invest in. Once approved and the work begins, we have to wait to see what this year’s fields of grants will yield. Our investigators work long hours – you can’t always schedule the right time for the next step in a study. They keep plugging away. The DMRF checks in with the investigators from time-to-time but mostly we have to hope the conditions are right for a good harvest. We have been fortunate to have worked with many of the finest dystonia researchers on the planet, who are working tirelessly for this community.


Think of our research program as the dystonia community garden – where highly selected scientific projects have been planted. Just think, when the timing is right and the conditions just so, imagine what our yield could be! We will keep you posted on how this garden is growing.

2009 DMRF Research Grants

On behalf of the Foundation’s Board of Directors, it gives me great pleasure to announce the 2009 research grants receiving important support this year. Deciding what grants to support is a difficult process and we could not do it without the assistance of the Foundation’s fabulous Medical & Scientific Advisory Board. Under the leadership of Mahlon DeLong, MD, DMRF’s Medical and Scientific Director and our Science Officer, Jan Teller, PhD, the members of the MSAC reviewed and discussed all applications submitted to the Foundation. Difficult decisions needed to be made on how best to invest our 2009 research funds and we were not able to support as many grants as we would have liked to have supported this year. Each of the grants supported will help us get that much closer to our goal of a cure for all forms of dystonia.


We are particularly happy with our decision to move ahead with our work with BioFocus to dramatically accelerate the drug discovery process by identifying and validating novel molecular targets for new treatments. This is the biggest project the Foundation has supported to date and we join with our partners, the Foundation for Dystonia Research and hopefully others to be announced soon, in putting this plan into action. We will report on this and the progress of our research projects throughout the year.


Those of you who are members and donors to the Foundation should know that because of your support, we are funding many of the brightest minds in dystonia research and you are helping to get us closer to a cure. Thank you! I invite you to take a minute to look at the projects we are funding this year.


http://www.dystonia-foundation.org/pages/research_in_2009/148.php

Science

As pleased as we are about the accomplishments of last year, we recognize that we have a great deal of work ahead of us yet to do and we are doing it during a very challenging time. The economy, the financial situation facing many Americans is sobering. We move forward into 2009 knowing that this may be a difficult year – but we do so with absolute resolve that the science we are funding is stellar and must be done if we are to get to our goals.

The grants we are funding this year will be announced shortly. We are pleased with the high quality of proposals we continue to receive. We are grateful to the many talented and experienced advisors who, under the leadership of DMRF’s Medical & Scientific Director, Dr. Mahlon DeLong, reviewed these applications and provided important comments on each. The DMRF and indeed the dystonia community are fortunate to have such dedicated and smart scientists and clinicians working to help us get to our goal of wiping out dystonia in our life time. They are amazingly gifted and generous individuals and with their continued guidance, we will get there.

DMRF Webinar

The Foundation will host a webinar on dystonia research on March 26. The speaker will be our own, Jan Teller, Ph.D., DMRF Science Officer. Jan will give us an overview of what is new and what to watch in dystonia research. He’ll also update us on the DMRF’s 2009 research plans.

I'll blog later on how it goes.