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.

Remembering Charles H. Markham, MD

It is with a deep sadness that I report the sudden death of Charles H. Markham, MD. Dr. Markham died in his home in Santa Barbara, CA last month.

Dr. Markham was an extraordinary man. He grew up in Southern California and served in the army during WWII, stationed in France, Belgium and Germany. During his service, he befriended a neurophsychiatrist who had Parkinson’s Disease and who was influential in Dr. Markham’s decision to become a physician.

Dr. Markham’s contributions to the DMRF and the dystonia community will be long felt. While at UCLA, Dr. Markham investigated the structure and function of the basal ganglia while evaluating treatments for Parkinson’s Disease, dystonia, and epilespsy. He was also committed to assisting patients in receiving the best treatments possible. Dr. Markham served as the DMRF’s Scientific Director from 1985 to 1994 helping to shape and develop both the DMRF’s research program and the Foundation during an important time. Since his retirement from this position, Dr. Markham continued to participate in scientific discussions – providing important guidance and counsel. He was instrumental in developing and implementing the brain tissue donation program. We send our condolences to Dr. Markham’s family and his many, many friends. He will be missed.

During this time of reflection and thanks, we here at the DMRF are thankful to have had the benefit of scientific leaders as Dr. Markham and so many others. Their commitment to this community is inspiring.

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.

Dystonia Education

Now that the summer is unofficially over, learning is happening anew as students return to schools across the country. Education is also on our minds as we finalize plans for several major educational efforts scheduled for this fall. We know that staying abreast of current developments in dystonia is critical to successfully managing this disorder. It is also important to be able to share these educational experiences with others who can truly understand dystonia – folks who are affected by dystonia either directly or through a loved one. The French poet and author, Anatole France said, “Nine tenths of education is encouragement.” We couldn’t agree more!

The Foundation has been a longtime supporter of educational opportunities – because it is important to hear from the leading medical experts but also because it is so important to connect with others – to receive and give encouragement. The DMRF will host a Western regional meeting on October 1 & 2 in Pasadena, CA and a Mid-Atlantic Meeting on November 14th in Silver Spring, MD. These meetings are designed to give you accurate, updated information but as importantly – provide you with a forum to make or renew friendships – to encourage and be encouraged.

If you can, please join us for these opportunities.

DMRF Board of Directors

The board of directors of any organization is its backbone. A board is responsible for providing the leadership and guidance needed for an organization to achieve its mission. For the DMRF, our board of directors also serves as an inspiration for so many who are affected by dystonia. We are fortunate to have volunteer leaders on our board who have passion, intelligence and an unwavering dedication to our goal of ridding the world of dystonia. This is particularly important as it relates to the type of science programs the DMRF will support – the risks we are willing to take to advance our understanding of the causes of dystonia and what can be done to expand the menu of dystonia treatment options.


The DMRF Board of Directors held its mid-year meeting this month. This meeting is traditionally a time for the Foundation to review the progress we have made in the first six months of the year and to begin to plan for the coming year. This year was no different. During the meeting, the board reviewed the Foundation’s plans for an updated homepage so that visitors to the website could more easily find the information they need. The new page went live shortly after the meeting and the response by many has been very positive! There was good discussion regarding the newly revised educational brochures and what educational materials are still needed – and planning for what we can do to fill those needs. Discussions and plans also focused on advocacy and our network of support groups.


We also reviewed the progress of our scientific investigators – both grant holders and those researchers with whom we have contracted to do dystonia work. We are planning a host a grant holders workshop next year. This is important as it provides an opportunity for the dystonia research community to have a robust discussion about current research and what direction it should take going forward. In the next few months you will hear more about the 2011 research grant program, our role in the 5th International Dystonia Symposium, the John H. Menkes Children & Family Symposium, and much, much more.

On behalf of a grateful DMRF community, I want to thank the members of the our Board of Directors for their tireless work.

Ongoing Battle

As you know, we celebrated the addition of dystonia to the list of eligible diseases/disorders for funding considerations through the Congressionally Directed Medical Research Program, managed by the Department of Defense. Getting listed was the first big hurdle – keeping dystonia listed will be an ongoing battle.

On Wednesday morning, DMRF member and DAN advocate, Kathy Rentfrow, who is both a military spouse and the parent of a child with dystonia, presented testimony to the Senate Defense Appropriations Subcommittee – during its first hearing on the FY 2011 Defense Appropriations Bill. The significance of being called to testify before the Senate Defense Appropriations Subcommittee cannot be understated. We are so grateful to Kathy for her willingness to testify and to share her family’s story so that the entire dystonia committee may benefit. We are hopeful that the invitation for a dystonia representative to appear before the Subcommittee greatly improves our chances of having dystonia remain on the eligible conditions list.

We know a number of dystonia researchers have applied for support for research funding through this program and thanks to Kathy and the many dystonia advocates, we hope the opportunity will continue through next year – and beyond!



Click to hear the testimony
http://appropriations.senate.gov/webcasts.cfm?method=webcasts.view&id=8951aa36-cc0c-463e-8464-cb08b2e75c73

In Memoriam - Shari Farber Tritt

It is with profound sadness that we announce the death of a member of the DMRF family, Shari Farber Tritt. Shari and her husband Ira touched the hearts of millions through the dystonia documentary film, TWISTED several years ago. For those of us who knew her, Shari was an inspiration every day. Although dystonia took much from her, she never let it defeat her. Shari had a love of life, an infectious laughter, a devotion to her family and the courage she demonstrated was a source of strength for so many in our community. Shari died on Saturday after a tragic accident in their swimming pool. She will be missed by many. Our sympathies go out to Ira, her parents, Harriett and Joel, and her sister Beth.

Dystonia Advocacy Day - 2010

Pictured above are just some of the many dystonia advocates who came out to Washington in support of Dystonia Advocacy Day 2010.

Many thanks to the dystonia advocates, especially our many first-timers, who participated in the biggest and best Dystonia Advocacy Day to date. Congratulations everyone! You were all fabulous!

Having so many wonderful people give their time and share their personal stories about how dystonia has affected their lives made for a very successful event. We are so grateful to all of you for joining us in this important effort. We appreciate how difficult it was for many of you to travel into Washington, DC and go from office to office in very warm temperatures. Please know your efforts do make a difference.

Advocacy is so important and you were able to enlighten many key individuals about dystonia and this is so important! Collectively we had over 100 meetings on the Hill – helping Members of Congress and/or their key health staff members understand what dystonia is and how they can help our community. People left exhausted but energized by the day’s work!

The Dystonia Advocacy Network was pleased to welcome Steve Groft, PharmD, Director of the NIH Office of Rare Disease Research as our key note speaker Tuesday evening – providing an overview of the important role patient advocates have in the research process.

We were also pleased to present Florida Congressman Bill Young with the 2010 DAN Distinguished Public Service Award for his support of the dystonia community.

A special salute to Millie Munoz for her efforts to join us in Washington, DC. Congresswoman Ileana Ros-Lehtinen of Miami highlighted dystonia and Millie on the floor of the House of Representatives yesterday. Check it out on YouTube: http://www.youtube.com/user/cemiwire#p/a/f/0/rzGlJ2WB9X0

American Academy of Neurology Recognizes Billy McLaughlin

This week the American Academy of Neurology will be in Toronto for its annual meeting. This meeting provides a wonderful opportunity for the DMRF to meet with the leading movement disorder specialists; reach general neurologists to raise their awareness of dystonia and the resource they have in the DMRF; and to work with other dystonia patient organizations in promoting the Career Development and Pilot Project grants of the Dystonia Coalition.

This year’s meeting has an added significance in that the Academy will be recognizing Billy McLaughlin with their 2010 Public Leadership Award. Billy, appointed DMRF Awareness Ambassador in 2008, will join Julie Andrews, Cuba Gooding, Jr., Leeza Gibbons, Leon Fleischer and others in being recognized by the AAN for the good works they have done in raising awareness of neurological disorders.

For those of you who have been lucky enough to meet Billy, you know how special this man is. His talents are enormous and his courage so inspiring. He is the subject of a documentary film that tells the story of his dystonia diagnosis and his brave decision to learn to play the guitar with his other hand! His comeback is truly remarkable. Billy is dedicated to raising dystonia awareness and to letting people know they are not alone in this battle. We are proud to work with him.

We salute Billy for this impressive honor and will be cheering loudly as he receives this well deserved recognition. Congratulations Billy! Way to go!!!

In the next few weeks we will have more news about Billy and how you will be able to view, Changing Keys, Billy McLaughlin and the Mysteries of Dystonia on your local PBS television station.

Greetings from DMRF's New President - Art Kessler

I essentially grew up with the Dystonia Medical Research Foundation (DMRF) and it is my great pleasure to now serve as President of the Board of Directors. My predecessor Claire Centrella led the DMRF through many important and exciting years, and her leadership was critical to our success. I join the dystonia community in thanking her for her committed and steadfast service.

A little about me: my parents, Dennis and Barbara Kessler, have been involved with the DMRF since the very beginning. Their commitment was fueled by the desire to make a significant difference in the quality of my life, for I had been diagnosed with early onset dystonia at the age of 12. This diagnosis came after years of unexplained symptoms, countless doctor visits, and many a sleepless night.

As a child, I was struck by their drive to make things better, not just for me, but for all families devastated by this disorder. They taught me to work hard for a cause bigger than myself and that is exactly what I plan to do. They didn't give up and they instilled in me that same unyielding desire to find the answers.

I support the work of the DMRF because it is making a difference. As an adult, I learned that I was positive for the DYT1 gene mutation, a gene found through funding by the DMRF. My two sons were conceived through a form of in vitro fertilization that ensured they would not inherit the mutated gene. They are dystonia free and, at 6 and 2 years old, are busy and energetic. Their childhood will be very different from mine, and that means the world to me.

In 2007, when it became too painful to walk to the park with my son, I decided to undergo deep brain stimulation surgery, the results have been life changing. My wife and sons now have a husband and father who, despite having dystonia, is physically able to be active and fully engaged. None of this would have been possible without the DMRF.

I know dystonia. I know the DMRF. Over the years, I have come to know many of you and I am optimistic about our future and our plans to wipe out dystonia. I look forward to working hard on your behalf and with your partnership. Thank you for your support.

Sincerely,


Art Kessler
President

Life changing phone call...

For many graduate students, a post-doctoral research position can be seen as a “fresh start”. It’s a great opportunity for you to break away from the research you’ve been entrenched in for the past five years, learning new skills and working in areas that you’re unaccustomed to. Finding funding to support these new interests, however, can be a bit of a challenge, and while it isn’t necessary for you to walk out of grad school with some sort of fellowship under your belt, it certainly doesn’t hurt, either.

This was the situation I was in when I was finishing my Ph.D. I had spent years doing basic science research in the functional neuroimaging of complex hand behavior. I wanted to branch into translational neuroscience, applying what I had learned during my graduate training to clinical work. I had some good ideas and the green light from my post-doctoral advisor, so I began applying to your standard course of fellowship opportunities: an NRSA through the NIH and a couple of private institutions. One of those private institutions was the Dystonia Medical Research Foundation, whom I happened across at their booth for the Society for Neuroscience (SFN) meeting earlier that year. For my post-doc, I was eager to do work with patients who suffer from task-specific focal hand dystonia (FHDtsp), a debilitating movement disorder that can often bring an early end to a professional performance career. Many of my other fellowship proposals were centered on working with this population, so applying for a post-doctoral fellowship from the DMRF made perfect sense.

An advisor in grad school once told me that the grant application process can be an “exercise in rejection”, and it seemed to me that my experience was no exception. I was especially disheartened the day I learned that my NRSA did not get funded and decided to leave my future advisor a message on his machine to break the bad news. However, no more than thirty minutes later, I received a phone message from a science officer at the DMRF. I called him back immediately, and he offered his congratulations, saying that the Foundation had reviewed my application and was happy to support my project. You can imagine my advisor’s surprise when I called him back and told him not to worry about my previous message. I have to admit--as much as an “exercise in rejection” the process can be, it can also be a bit of an emotional rollercoaster.

Needless to say, the whole situation could not have turned out any better. Support from the DMRF has been far more than just two years of research funding. The Foundation does an exhaustive job of training post-doctoral fellows and preparing them for future careers in academia. The DMRF plays an active role in dystonia research, and has a strong presence at many scientific meetings (including SFN). Through the DMRF, I have been able to meet and network with other leading investigators in the field. In addition, the DMRF is responsible for organizing events where other scientists collaborate to advance the field of dystonia research. As I neared the end of my support period with the DMRF, they were encouraging and helpful as I applied for extramural funding. On top of all of this, the DMRF provides a substantial amount of outreach and health information to the dystonia community. It has been an inspiring experience and an honor to work with them.

I strongly encourage anyone interested in dystonia research to look into a Post-Doctoral fellowship from the DMRF. I’m hoping that someday you’ll get the same phone call.

Leighton Hinkley, PhD
Postdoctoral Fellow
University of California, San Francisco

Our salute to you

DMRF Founders Fran and Sam Belzberg in Vancouver with the Olympic torch. Sam Belzberg was an official flame carrier and is pictured here in the uniform of those who carried the torch for these games.

Athletes prepare for years to qualify for the Olympic competition. They work tirelessly on conditioning, skill building and strategy – all with an eye toward the dream of winning a gold, silver or bronze medal someday. Persons living with dystonia are all gold medal winners in our eyes. They too work tirelessly to develop the skills it takes to manage life with dystonia, creating strategies for how to overcome the limitations dystonia has imposed and the effort to do this is equal or more than that of an Olympiad. We salute those struggling to overcome the burdens of dystonia and go into our annual meeting, research reviews and planning for 2010, inspired by your stories, your courage and strength.

DMRF Update

Pictured above are Jan Teller (standing) and Mahlon DeLong.

The DMRF has been working to prepare for the annual meeting of our Medical and Scientific Advisory Council (MSAC) and Board of Directors meetings scheduled for February 25 to 27th. This is a busy but exciting time for the Foundation. Our wonderful MSAC members will review the grant and fellowship applications – discussing the scientific merit and the applications relevancy.

I wish everyone could witness this process as these reviews are thorough and thoughtful. Our MSAC members work with an understanding of the urgency in the community and the need for us to invest in those projects and investigators that are most likely to produce another piece of this dystonia puzzle – leading us to have a fuller scientific picture. Leading this effort is Mahlon DeLong, the Foundation’s Scientific Director and Jan Teller, the Foundation’s Science Officer – we are fortunate to have the benefit of these two dedicated individuals and are grateful to them for all they do for the DMRF and the dystonia community.

Joining us this year for this meeting will be the President and Executive Director of the European Dystonia Federation (EDF). We know that solving the dystonia mystery is going to take a global effort and we are so pleased that they are joining us for this meeting and discussions on how we can continue our collaboration going into 2010 and beyond.

The DMRF Board will also be discussing a number of new and exciting program initiatives. We look forward to sharing those with all of you following the meeting. Stay tuned for research and program announcements in March.

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.