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Mitochondrial Medicine 2015 UMDF Quarterly publication connect Volume 19, Issue 2, Spring 2015 Mitochondrial Medicine 2015 ach year, the United Mitochondrial Disease Foundation For affected individuals and families, the UMDF Symposium holds what is described as “THE” scientific/family provides a unique opportunity to interact with researchers meeting for mitochondrial disease and dysfunction. and clinicians on the forefront of mitochondrial medicine. The meeting offers a two-day patient/family program with two tracks EMitochondrial Medicine 2015, which is being held in Herndon, to meet a variety of needs – affected adults, parents, caregivers, VA, features two sessions. Scientific/Clinical meetings will be teens, and an opening session targeted for all attendees to held June 17-20, 2015. Family sessions will be held June 19-20, prep them for the entire conference. Patients and families can 2015. On June 18, the UMDF will hold its third “Day on the Hill.” also participate in our “Ask the Mito Doc” panel and the very Both family and scientific attendees are encouraged to sign up important “The Doctor is In,” which offers patients and families and attend. the opportunity to meet with some of the top specialists in mitochondrial medicine one-on-one. For the scientific and medical community, the UMDF Symposium is the major meeting that updates and educates on the latest Scientific and Family registrations, hotel and transportation advances in mitochondrial medicine. The meeting does offer information can be found at www.umdf.org/symposium. CME credits. The meeting will bring together clinical and basic science researchers. Participants come from many fields, Since the symposium is being held in the Washington DC area, including biochemistry, genetics, neurosciences, cardiology, UMDF will coordinate our third “Day on the Hill” advocacy event. cancer, diabetes, nephrology, pediatrics and aging research. Day on the Hill will be held on Thursday, June 18. Scientific and family attendees who participate will have a meeting with the two At any major scientific meeting, a handful of presentations on U.S. Senators and their Congressmen. UMDF will help prepare mitochondrial disease will be found; but in order to stimulate attendees for these meetings with a special session on June 17. research interactions in this ever-expanding cross-disciplinary To sign up for the UMDF’s Day on the Hill, please visit https:// field, the UMDF symposium focuses entirely on mitochondrial www.surveymonkey.com/s/Dayonthehill2015. medicine. This year’s scientific session is chaired by Marni Falk, MD, Children’s Hospital of Philadelphia and Danuta Krotoski, We hope to see you in Herndon, VA, for Mitochondrial Medicine PhD, National Institute of Child Health and Human Development, 2015: Washington DC in mid-June! National Institutes of Health, Bethesda, MD. With generous support from With generous support from From the Chairman n the last newsletter, • UMDF has awarded I shared how I am nearly $13 million in scientific constantly struck by and clinical research grants, the progress and rate leading to current clinical Contents Iof change that we are testing trials of new drugs witnessing throughout and other potential therapies. UMDF News - pages 5 - 7 the broader mitochondrial • We have established community and how this fuels UMDF as the central UMDF Member Stories - pages 8 - 10 my optimism for the arrival steward of the therapeutic of effective treatments and development process UMDF Education - pages 11 - 15 cures in the coming years. I by collaborating with am also committed to use government agencies, Adult Corner - page 18-19 this space to share examples academic institutions and of the progress we are making, to spark drug development companies. UMDF National - page 21 a dialogue about the challenges we are • We recently launched the facing and to highlight where we need Mitochondrial Disease Community UMDF Events - pages 22-23 your help. Registry, a patient-populated database of medical and genetic UMDF Connect - page 27 One of the things that I have learned information used to develop better over the years is that achieving a truly diagnoses and new treatments. meaningful goal in life is most often • Our Grand Rounds program has BOARD OF TRUSTEES achieved as a result of lots of very already educated over 4,000 medical Patrick Kelley - Chairman small, yet deliberate actions performed professionals at hospitals in 64 cities W. Dan Wright - Vice Chairman consistently over a long period of time, nationwide on the latest developments John A. DiCecco - Treasurer/Secretary and not the result of a singular definable in diagnostics and treatments. event. In these types of situations, I have • We host an international Annual Bruce H. Cohen, MD found that it is helpful to periodically take Symposium, and regional meetings Marni Falk, MD - SMAB Chair a step back and look at the total picture across the U.S., where scientists, Brent Fields in order to fully appreciate the impact doctors, and the affected community and degree of change. As part of our come together to share and exchange Amy Goldstein, MD annual UMDF Board of Directors Strategic new trends in research, diagnosis, Hooper Hardison Planning retreat this past January, we took and potential treatments. John Kieffer the opportunity to step back and reflect Richard Leach on UMDF’s impact. If you are reading this While UMDF’s impact to date is significant newsletter, you are one of the thousands and something for which we are rightfully Marty Lyman of patients, family members, clinicians, proud, UMDF’s role is growing more Sharon Shaw Reeder - Member Liaison researchers, or elected officials who have urgent every day with research linking Tyler Reimschisel, MD contributed to UMDF’s progress over the mitochondrial dysfunction to numerous Debra Schindler-Boultinghouse years. I trust you will enjoy reading just a other diseases like Alzheimer’s, few of the highlights that we summarized Parkinson’s, diabetes and autism. Charles A. Mohan, Jr. - Chair Emeritus at our Board retreat regarding UMDF’s impact over the years. Although the challenges are great, I am SCIENTIFIC & MEDICAL ADVISORY BOARD confident that working together and Marni Falk, MD - Chair Since our founding in 1996, we have made harnessing the power of our collective significant progress in raising awareness of efforts, we can transform medicine for Andrea L. Gropman, MD, FAAP, FACMG mitochondrial disease, empowering those millions -- unlocking treatments and cures Richard H. Haas, MB, BChir affected and those providing treatment, for those afflicted with mitochondrial Marcia Haigis, PhD resulting in quicker diagnoses, improved disease, as well as these other conditions. Carla Koehler, PhD treatments and better coordinated Thank you for your continued efforts. research efforts. Dwight Koerbel, MD, PhD I look forward to seeing many of you at Mark Korson, MD • We are active in all 50 states and have our annual Symposium and “Day on the Giovanni Manfredi, MD, PhD built engagement in 152 countries Hill” in the Washington DC metropolitan around the world. area in mid-June. More information on Robert McFarland, MBBS, PhD • We host Energy for Life Walk the Scientific/Clinical meetings, the Family Edward McKee, PhD events in 28 cities and created the sessions and the Day on the Hill are Sumit Parikh, MD first-ever Congressional Caucus included in this newsletter. Russell Saneto, DO, PhD on Mitochondrial Disease focused on raising awareness leading to Fernando Scaglia, MD significant growth of federal research Gerard Vockley, MD, PhD funding. Richard Youle, PhD Patrick Kelley, UMDF Chairman UMDF Connect | Spring 2015 3 Use the power of genetic testing to identify xxxxxx Mitochondrial diseases Our genetic testing oers diagnostic solutions Transgenomic provides comprehensive evaluation panels and/or panel combinations for mitochondrial disease, including: _ Nuclear mitochondrial next-generation sequencing (NGS) targeting 448 nuclear mitochondrial genes _ 98% coverage on targeted regions at 20x provides accuracy for condent patient management decisions _ Mitochondrial DNA (mtDNA) whole genome assay _ Whole exome sequencing (WES) _ mtDNA reex to nuclear mitochondrial NGS _ High-density SNP array and WES to provide a complete evaluation with 1 request For confidence in you diagnosis, Transgenomic uses CarpeNovo, an exclusive technology that complies 6 database sources and employs custom algorithms to annotate variants and improve interpretations. TO LEARN MORE, VISIT LABS. TRANSGENOMIC.COM 4 UMDF Connect | Spring 2015 news McGovern to Co-Chair Caucus he United Mitochondrial Disease Foundation is pleased dysfunction is linked to many to announce that Representative Jim P. McGovern other well-known diseases, and an has agreed to serve as co-chair of the Congressional update on research that is aimed Mitochondrial Disease Caucus. towards better treatments and T potential cures. McGovern, who represents Massachusetts’ second congressional district, is the democratic co-chair of the caucus. Massachusetts residents should He will join Representative Tim Murphy of Pennsylvania’s 18th contact Rep. McGovern and district. Rep. Murphy serves as the republican co-chair of the thank him for agreeing to help caucus. Rep. McGovern replaces Rep. Anna Eshoo (D-CA-18) as our community in Congress. His democratic co-chair. Rep. Eshoo remains on the Congressional office number is 202-225-6101. Mitochondrial Disease Caucus. California residents should contact Rep. Eshoo and thank her for her The caucus was formed by Rep. Eshoo and Rep. Murphy. It help in creating the caucus and for Representative Jim P. McGovern serves as a way to educate members of congress on issues that remaining a champion in Congress affect the entire mitochondrial disease community. Each year, the for members of the mitochondrial UMDF develops and presents briefings on mitochondrial medical disease community. Her phone issues. Some of the topics have included how mitochondrial number is 202-225-8104. UMDF Secures DoD Funding or some organizations, it takes years to have a disease million within the DoD budget to a peer reviewed cancer research or condition listed in what is known as Congressionally program.
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