Biographies of MDCC Members

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.

Brian Denger
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.

CAPT E. Melissa Kaime, M.D., FACP
CAPT Kaime is a board certified hematologist, oncologist and internist who serves as the Deputy Director of the Congressionally Directed Medical Research Programs (CDMRP) Office, US Army Medical Research and Materiel Command. CDMRP ensures the sponsorship, and manages a research portfolio, of peer-reviewed meritorious science that meets the intent of Congress interests, including muscular dystrophy.

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.

Shannon Lord
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.

Daniel Paul Perez
Founder, President and CEO of the FSH Society.  A graduate of Harvard College, he has extensive experience in scientific software and database design and a strong biology background.  Mr. Perez is in contact with professionals and fellow facioscapulohumeral muscular dystrophy (FSHD) patients worldwide to promote and fund FSHD research. He has extensive interactions with NIH, Members of Congress, and other muscular dystrophy organizations to advance FSHD research.

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 has been in the position of Acting Director, National Heart, Lung, and Blood Institute (NHLBI) since December 2009. Prior to that, she served as NHLBI's Deputy Director. 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.

Porter, John D., Ph.D.
Executive Secretary, MDCC
Program Director, Neuromuscular Disease, NINDS, NIH
Email: porterjo@ninds.nih.gov