Sara Copeland, M.D.
Dr. Copeland is Medical Officer, Genetic Services Branch in the Maternal and Child Health Bureau, Health Resources and Services Administration (HRSA). Prior to joining HRSA, Dr. Copeland was Assistant Professor of Pediatrics, University of Iowa. Dr. Copeland is a member of several professional organizations. She has extensive experience in newborn screening, a topic of vital importance to the MDCC, having served as medical director or consult for the newborn screening programs of four different states. In particular, her scientific publications on newborn screening, as well as experience in use of tandem mass spectrometry technology for this purpose, make her well-qualified to provide advice on topics important to the development of novel therapeutics for muscular dystrophy.
Valerie A. Cwik, M.D.
Dr. Cwik is Medical Director and Executive Vice President for Research with the Muscular Dystrophy Association (MDA). Dr. Cwik has an extensive background in neuromuscular disease management and research. She is a resource on matters relating to the increased complexities of patient management and clinical trials. She is the chief spokesperson for the MDA in media matters relating to their health care services program and advances in scientific research.
Mr. Denger is a parent of two children affected by Duchenne muscular dystrophy. Mr. Denger is a Collaborative Programs Administrator with the Parent Project for Muscular Dystrophy. Mr. Denger has been active in seeking new or improved therapies and possible cures for muscular dystrophy. He has made advocacy an important part of his life, and he strongly supports programs that enhance patient lives by increasing access to current research and care information, services, or participation in efforts to improve the prognosis for acute or chronic conditions.
Alan Guttmacher, M.D.
Dr. Guttmacher is the Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the focal point at the National Institutes of Health for research in pediatric health and development, maternal health, reproductive health, intellectual and developmental disabilities, and rehabilitation medicine. A pediatrician and medical geneticist, Dr. Guttmacher previously was at the National Human Genome Research Institute, where he served in several roles, including Deputy Director and Acting Director, overseeing that institute’s efforts to advance genome research, integrate that research into health care, and explore the ethical, legal, and social implications of human genomics. Among Dr. Guttmacher’s areas of expertise is the development of new approaches for translating genomics into better ways of diagnosing, treating, and preventing disease. He is a member of the Institute of Medicine.
Stephen I. Katz, M.D., Ph.D.
Dr. Katz has been Director of the NIAMS since August 1995; muscle biology and the muscular dystrophies are areas of research emphasis for NIAMS. Dr. Katz has served many professional societies in leadership positions including as a member of the Board of Directors and President of the Society for Investigative Dermatology, on the Board of the Association of Professors of Dermatology, as Secretary-General of the 18th World Congress of Dermatology in 1992, as Secretary-Treasurer of the Clinical Immunology Society, and as Past President of both the International League of Dermatological Societies and the International Committee of Dermatology. He is also a Senior Investigator in the Dermatology Branch of the National Cancer Institute. Dr. Katz is a member of the National Academy of Sciences Institute of Medicine.
Story C. Landis, Ph.D.
Dr. Landis has been the Director of the National Institute of Neurological Disorders and Stroke since September 2003, and had previously been the NINDS Scientific Director, since 1995. Dr. Landis is widely recognized for her research on the development of the nervous system and has made many fundamental contributions to the understanding of developmental interactions required for synapse formation. She has garnered many honors and awards and is an elected fellow of the Academy of Arts and Sciences, the American Association for the Advancement of Science, and the American Neurological Association.
COL Jeffrey C. Leggit, M.D.
COL Leggit is Director of the Congressionally Directed Medical Research Programs (CDMRP). He is a Board Certified Family Physician with a certificate of added qualification in Primary Care Sports Medicine. In his current position, he is responsible for all aspects of planning, execution, and management of the CDMRP mission, which includes research in 17 active programs including Breast cancer, Prostate cancer, Ovarian cancer, Neurofibromatosis, Duchenne muscular dystrophy, Autism and other peer-reviewed research programs. In 2003, COL Leggit deployed in support of Operation Iraqi Freedom as a Battalion Surgeon with 1-67 Armor, 2nd Brigade, 4th Infantry Division. Prior to the CDMRP, he served as Deputy Commander for Clinical Services for General Leonard Wood Army Community Hospital, Fort Leonard Wood, Missouri and Commander of Barquist Army Health Clinic at Fort Detrick, Maryland.
Ms. Lord served as founding Chairman of the Board of the Myotonic Dystrophy Foundation from 2005 till 2009. She and her two adult sons have myotonic dystrophy type 1 (DM1); however, she has been minimally affected to date. Artist, writer, community and school volunteer, she has advocated for DM for over ten years by raising research funding, sponsoring and speaking at bi-annual International Myotonic Dystrophy Conferences (IDMC) since 2001 and the 2005 NIH Burden of Muscle Disease conference, and serving as patient advisor for the DM and FSHD registry at the University of Rochester. She contributed a chapter to Present Management, Future Therapy edited by Dr. Peter Harper et al and served as a reader for his book for patients, Myotonic Dystrophy, The Facts. She resides in Atlanta with her architect husband and two adult sons.
Anne R. Pariser, M.D.
Anne Pariser is the Associate Director for Rare Diseases in the Office of New Drugs (OND), Center for Drug Evaluation and Research, US Food and Drug Administration. Dr. Pariser works to facilitate the research and development of investigational drug and biological products for the treatment of rare diseases, and has extensive experience in the regulation and oversight of rare disease development programs, especially rare genetic disorders. She also serves as a resource at FDA on complex issues for conducting rare disease clinical research, and is actively involved in numerous collaborations within FDA and with drug developers, other governmental agencies, advocacy groups and other stakeholders to further the development of products for rare diseases. Recent publications have focused on the advancement of regulatory, translational and biomedical science for rare diseases and Orphan products. Dr. Pariser has worked at FDA since 2000. Prior to founding the Rare Diseases Program, she was a Medical Officer and Team Leader in OND.
Anne M. Rutkowski, M.D.
Dr. Rutkowski is co-founder and Chairman of Cure CMD, and an emergency medicine physician in Los Angeles. Dr. Rutkowski’s daughter has congenital muscular dystrophy, subtype, dystroglycanopathy. She would like to shrink the diagnostic odyssey, decrease variability in health care delivery to people with CMD and focus the approach to identifying therapeutic targets. Cure CMD's mission is to find treatments and cure for the CMDs.
Theresa B. San Agustin, M.D.
Dr. San Agustin lost her hearing at the age of 4. She began her medical career as a Staff Fellow in Molecular Genetics at the National Institute on Deafness and Other Communication Disorders (NIDCD), NIH. Currently, Dr. San Agustin leads and coordinates the Congressionally-mandated Model Spinal Cord Injury and Burn Injury Rehabilitation Programs and serves as a Project Officer in the Traumatic Brain Injury Program, Rehabilitation Research and Training Center in Neuromuscular Diseases and other health-related rehabilitation research at the National Institute on Disability and Rehabilitation Research (NIDRR), U.S. Department of Education. She is a member of several Advisory and Federal Interagency Coordinating Committees and co-chairs the Congressionally-mandated Interagency Committee on Disability Research (ICDR), Subcommittee on Medical Rehabilitation, which reports to Congress annually. Dr. San Agustin is well-published in the New England Journal of Medicine, Journal of Burn Care and Research, and various Human Genetics and Otolaryngology Journals. She is a chapter contributor to 'Welner's Guide to the Care of Women with Disabilities', published in 2004.
Susan B. Shurin, M.D.
Dr. Shurin is deputy director of the National Heart, Lung, and Blood Institute (NHLBI) at the National Institutes of Health (NIH). Prior to that, she was Professor of Pediatrics and Oncology at Case Western Reserve University in Cleveland, OH, where she was also Hospital Director of the Division of Pediatric Hematology-Oncology. Early in her career, she studied the physiology of phagocytes, mechanisms of hemolysis, and iron overload. She started her activities in clinical research with the development of desferrioxamine for chronic iron overload in thalassemia, and continued investigations of multiple aspects of hematologic and pediatric oncologic disorders. She has held leadership positions in the Children's Oncology Group and multiple professional societies.
Currently, Dr. Shurin is responsible for oversight of the clinical research portfolio at the NHLBI, including its 85 Data and Observational Safety Monitoring Boards. She serves on the Institute and Center Director Advisory Committee for the CTSAs. She is Acting Director of the Division of Blood Diseases and Resources at the NHLBI, in which capacity she is leading a realignment of the sickle cell disease research portfolio.
Mark E. Swanson, M.D.
Mark E. Swanson, MD, MPH is Senior Medical Adviser in the CDC’s Division of Human Development and Disability at NCBDDD. His current work focuses on data collection, nutrition and using a Life Course Model to improve functional outcomes in spina bifida, muscular dystrophy, and Fragile X. He initiated and serves on the AAP work group developing a Clinical Report on diagnosing motor delays in young children. He has been board-certified in Pediatrics and Developmental-Behavioral Pediatrics during his 30 year career in academics and government service. He has a career-long commitment to full inclusion and participation of persons with disabilities.
Porter, John D., Ph.D.
Executive Secretary, MDCC
Program Director, Neuromuscular Disease, NINDS, NIH
Last updated February 5, 2013