Diana Bianchi M.D.
Federal Agency Representative
Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH
Bethesda, Maryland

Dr. Bianchi is the Director, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Dr. Bianchi was appointed as Director (October, 2016). Several of the muscular dystrophies affect young children and thus are a research area of interest to NICHD. Dr. Bianchi recently received two major lifetime achievement awards: the Landmark Award in 2015 from the American Academy of Pediatrics in recognition of her research and contributions to genetics and newborn care, and the Maureen Andrew Award for Mentoring in 2016 by the Society for Pediatric Research, which recognized her commitment to mentoring the next generation of clinician-scientists.) She was elected to membership in the Institute of Medicine (now National Academy of Medicine) in 2013.

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Gustavo Dziewczapolski PhD, (Ad Hoc)
Public Member
Scientific Director, CureCMD
San Diego, CA
Term End:
December 31, 2020

Dr.  Dziewczapolski brings to the table the voice of thousands of affected individuals, who have given their trust to Cure CMD as the source for current information about advances in research, diagnostic and care guidelines, as well as new therapies and clinical trial opportunities for the spectrum of congenital muscular dystrophy in particular, and the field of neuromuscular disease in general.  Dr. Dziewczapolski is leveraging over 20 years of neuroscience research including interdisciplinary projects at three different international Centers of Excellence funded by the National Parkinson’s Foundation: Buenos Aires, Paris, and San Diego; interinstitutional NIH-funded program project grants for more than 10 years, involving 4 basic research groups, 3 core facilities, statistics and translational units.

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Ryan Fischer
Public Member
Senior Vice President, Community Engagement, Parent Project Muscular Dystrophy
Hackensack, NJ
Term End:
December 31, 2020

Ryan  oversees strategic community engagement, patient preference research, and grassroots advocacy, guiding the patient community on how to interact with members of Congress and federal agencies. Ryan currently leads PPMD’s national grassroots outreach network, PPMD CONNECT. These parent-led state specific groups serve to connect families with local support and work to turn the catastrophic nature of the diagnosis of Duchenne into advocacy and action to impact outcomes in Duchenne. Ryan guides the patient community through empowering their individual interactions with members of Congress and federal agencies.

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Eugene Freund, MD, MSPH, CAPT USPHS
Federal Agency Representative
Medical Officer
Washington, D.C.
Term End:
December 31, 2020

Dr. Freund is a practicing physician and a medical officer in the center for consumer information and insurance oversight.  He is providing clinical and public health expertise for the Center and providing guidance on clinical coverage issues and assessing compliance with regulatory requirements such as delivery of essential health benefits, non-descrimination, and provider network adequacy.

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Sharon Hesterlee, Ph.D.
Public Member
EVP Patient Advocacy and Public Affairs, Bamboo Therapeutics
Tucson, Arizona
Term End:
December 31, 2018

Dr. Hesterlee has been heavily involved in muscular dystrophy research for the last 15 years, having spent 10 years overseeing translational research at the Muscular Dystrophy Association (MDA) and over 5 years directing research activities at Parent Project Muscular Dystrophy and the Myotonic Dystrophy Foundation. She was involved in the passage of the original MD CARE Act in 2001, as well as the subsequent re-authorization efforts. She represented the MDA as a founding member of the Muscular Dystrophy Coordinating Committee (MDCC ) from 2002-2007, and she has served on the National Advisory Neurological Disorders and Stroke Council.

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Devanand Jillapalli, M.D.
Federal Agency Representative
Medical Officer, Office of Orphan Products Development, Office of the Commissioner, Food and Drug Administration
Silver Spring, Maryland
Term End:
December 31, 2020

Dr. Jillapalli is a neurologist with board certification in neurophysiology and electromyography, and with extensive experience in diagnosis and treatment of patients with neuromuscular disorders. Since 2006, he has been a Medical Officer at the Food and Drug Administration (FDA) and has been involved in regulatory review of candidate therapeutics for neurological indications, including neuromuscular disorders. Dr. Jillapalli also has experience in the Rare Disease Program at FDA. Through clinical practice and regulatory review, he has considerable expertise in the muscular dystrophies and has co-authored a publication on drug development and regulatory considerations for Duchenne muscular dystrophy.

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Stephen I. Katz. M.D., Ph.D.
Federal Agency Representative
Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health
Bethesda, Maryland

Dr. Katz has been Director of the NIAMS since August 1995. In 2003, Health and Human Services Secretary Tommy Thompson appointed Dr. Katz as the original chair of the MDCC. He held this position through 2007, then served a second term from 2015-2017. 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. Dr. Katz is a member of the National Academy of Sciences Institute of Medicine (now National Academy of Medicine).

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James P. Kiley, Ph.D.
Federal Agency Representative
Director, Division of Lung Diseases, National Heart, Lung and Blood Institute, National Institutes of Health
Bethesda, Maryland

Dr. Kiley joined the National Heart, Lung and Blood Institute (NHLBI) in 1984 as Health Scientist Administrator in the Institute's Division of Lung Diseases. The muscular dystrophies are areas of research emphasis for NHLBI. From 1989-1994, Dr. Kiley served as Chief of the Division's Airways Diseases Branch. From 1995-2000 he served as Director of the National Center on Sleep Disorders Research, which is part of NHLBI. He was named Director of the Division of Lung Diseases in 2000. Dr. Kiley's primary research interests include obstructive and interstitial lung diseases and sleep. Dr. Kiley is the author or coauthor of more than 85 scientific publications and abstracts. He has served as a reviewer for the Journal of Applied Physiology, Chest, Respiratory Physiology, the Journal of the U.S. Public Health Service, and the Journal of Clinical Investigations.

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Walter Koroshetz, M.D.
Chair, MDCC; Federal Agency Representative
Director, National Institute of Neurological Disorders and Stroke, National Institutes of Health
Bethesda, Maryland

Dr. Koroshetz is the Director of NINDS. He served as the NINDS Deputy Director since January 2007. Disorders of brain, nerve and muscle are areas of research emphasis for NINDS. Before joining NINDS, Dr. Koroshetz served as vice chair of the neurology service and director of stroke and neurointensive care services at Massachusetts General Hospital (MGH). He was also a professor of neurology at Harvard Medical School and led neurology resident training at MGH between 1990 and 2006. His research work spanned basic neurobiology to clinical trials in stroke and Huntington’s disease with a major focus in developing neuroimaging techniques to chart disease progression and enable therapeutic development.

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Plavi Jain Mittal, Ph.D.
Public Member
Founder and CEO, In-Depth Diagnostics (IDD)
Seattle, Washington
Term End:
December 31, 2018

Dr. Mittal is founder and CEO of In-Depth Diagnostics (IDD). IDD will use whole genome sequencing to bring genetic diagnosis to patients across a wide range of neurological conditions, including the muscular dystophies. Dr. Mittal served for 12 years as President and Chief Executive Officer of the Jain Foundation which is a non-profit organization with a mission to identify a cure or therapies for dysferlinopathy, a type of muscular dystrophy. The foundation is privately supported and does not solicit funding from patients or other sources. The foundation's activities include providing financial support to scientific researchers, identifying promising drug candidates, funding clinical trials and studies, educating patients and helping patients obtain genetic diagnoses. Dr. Mittal earned her Ph.D. in Biology from Brandeis University and did her postdoctoral research in molecular oncology at Harvard Medical School. She was also a management consultant at a global consulting firm, where she worked with leading pharmaceutical companies. She became involved with the dysferlin field in 2001, when her nephew was diagnosed with dysferlinopathy.

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Glen H. Nuckolls, Ph.D.
Executive Secretary, MDCC
Program Director, Extramural Research Program, NIH/NINDS
Bethesda, Maryland

Glen Nuckolls is a member of the Neurogenetics Cluster, and is the NINDS point of contact for the muscular dystrophies, spinal muscular atrophy, myasthenia gravis and some other inherited neuromuscular diseases. He is the Executive Secretary of the interagency Muscular Dystrophy Coordinating Committee and NIH coordinator for the Wellstone Muscular Dystrophy Cooperative Research Centers. Glen received his Ph.D. in cell biology and anatomy from the University of North Carolina and completed postdoctoral training in the Department of Biochemistry at Stanford University. He joined the intramural program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) as a Staff Fellow in 1995 and led a research group studying cartilage biology and skeletal development. He moved to the extramural programs of NIAMS in 2003, as the Scientific Review Officer for the NIAMS training and career development study section. In 2004 he became the NIAMS Program Director for Skeletal Muscle Diseases and managed the grants portfolio on the muscular dystrophies, channelopathies, atrophy and other muscle disorders. He also served as the acting Director of the Division of Extramural Activities for NIAMS in 2009.
 

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Grace Pavlath, PhD
Public Member
Senior Vice President and Scientific Program Director, Muscular Dystrophy Association
Muscular Dystrophy Association
Term End:
December 31, 2020

Dr. Pavlath's background includes 32 years of experience as an academic researcher in skeletal muscle growth and regeneration in health and disease. This includes 4 years experience with basic and clinical research on myoblast transplantation in Duchenne muscular dystrophy as well as 10 years experience with research relevant to oculopharyngeal muscular dystrophy.  She is responsible for overall management and further development of MDA’s scientific program as it relates to discovery, translational and clinical research in the muscular dystrophies and other neuromuscular disorders. Furthermore, she provides scientific leadership for MDA through interactions with federal agencies, national/international neuromuscular disease partners, drug development groups and pharmaceutical companies, as well as with patient advocacy groups and other stakeholders.

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Georgina Peacock, M.D., M.P.H, FAAP (Ad Hoc)
Federal Agency Representative
Director, Division of Human Development and Disability, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention
Atlanta, Georgia

Dr. Peacock is the Division Director for the Division of Human Development and Disability (DHDD) at the National Center on Birth Defects and Developmental Disabilities (NCBDDD). Dedicated to the health and development of children and adults across the lifespan, she applies her personal passion and knowledge to a critical leadership position at the Centers for Disease Control and Prevention (CDC). In addition to her DHDD responsibilities, Dr. Peacock continues to see patients in developmental clinics - the Good Samaritan Health Center and the DeKalb County Refugee Clinic - while also serving as an adjunct professor with the Georgia State Center for Leadership in Disability and Georgia Leadership & Education in Neurodevelopmental Disabilities program. She also represents CDC on a number of federal and national committees including the HHS Pediatric/Obstetric Integrated Program Team, the HHS CHILD Working Group, the American Academy of Pediatrics (AAP) Council on Children with Disabilities, and AAP’s Disaster Preparedness Advisory Council. As an expert member of CDC’s Children’s Preparedness Team, working with CDC’s Office of Public Health Preparedness and Response (OPHPR), Dr. Peacock holds a substantial role in public health disaster preparedness and response for children.

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Daniel Paul Perez
Public Member
President and Chief Executive Officer, Facioscapulohumeral Society, Inc.
Watertown, Massachusetts
Term End:
December 31, 2020

Mr. Perez, who has Facioscapulohumeral Muscular Dystrophy (FSHD), is the founder of the FSH Society, and currently serves as its President and CEO. He has a strong background in biology, including a B.A. degree from Harvard, and extensive experience in software development and design, particularly with regard to scientific applications. Mr. Perez is in regular contact with scientists working on FSHD around the world, and he has had extensive interactions with NIH, Members of Congress, and other muscular dystrophy organizations; his organization, the FSH Society, has funded research in FSHD and has organized the FSHD Champions group, an alliance of patient advocacy groups working together to accelerate FSHD research. Mr. Perez has FSHD and is one of two MDCC members who are, themselves, directly affected by muscular dystrophy.

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Kimberly Richey
Federal Agency Representative
Acting Assistant Secretary, Office of Special Education and Rehabilitative Services (OSERS), United States Department of Education
Washington, D.C.
Term End:
December 31, 2020

Kimberly M Richey is the Deputy Assistant Secretary and Acting Assistant Secretary in the Office of Special Education and Rehabilitative Services at the United States Department of Education. Prior to joining the Department, Kim served as the Managing Director of Federal Advocacy and Public Policy at the National School Boards Association.  Formerly, Kim served as the General Counsel of the Oklahoma State Department of Education (OSDE), where she represented the Department, the State Board of Education, and the State Superintendent of Public Instruction. Prior to her work at OSDE, Kim served as the General Counsel and Associate Director of the Oklahoma Council on Law Enforcement Education and Training, a post-secondary state education agency focused on peace officer training.  From 2004 to 2009 , she was the counselor to the Assistant Secretary in the Office for Civil Rights (OCR).  During that time, Kim also served as Acting Chief of Staff in the Office of Legislative and Congressional Affairs (OLCA).  Kim is a native of Corpus Christi, Texas, and holds a Bachelor's degree in Education from Southern Nazarene university.  She is a certified teacher and is licensed to practice law in Oklahoma, Texas, and the District of Columbia.

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Catharine Riley, Ph.D., M.P.H.
Federal Agency Representative
Lead, Newborn Screening, Genetic Services Branch, Maternal and Child Health Bureau, Health Resources and Services Administration
Rockville, Maryland
Term End:
December 31, 2020

Catharine Riley, PhD, MPH is the Newborn Screening Lead in the Genetic Services Branch, Division of Services for Children with Special Health Needs at the Health Resources and Services Administration and advises on the development and integration of genomics into healthcare and public health. Previously Dr. Riley served as a Health Scientist on the Rare Disorders and Health Outcomes Team in the National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention, where she led the agency’s fragile X syndrome activities. Prior to CDC, Dr. Riley served as a Genetic Services Specialist and Follow-up Specialist in the Office of Newborn Screening for the Washington State Department of Health. She also served as Director of the Arizona Turning Point Project, a program funded by the Robert Wood Johnson Foundation to strengthen the public health system, and worked with the National Turning Point Office to conduct research on the ability of Turning Point states to leveraging resources and make the case for investing in public health infrastructure.

Dr. Riley holds a Doctor of Philosophy and a Master of Public Health in Public Health Genetics from the University of Washington School of Public Health, a Master of Public Health in Health Administration and Policy from the Mel and Enid Zuckerman Arizona College of Public Health, and a Bachelor of Science in Molecular and Cellular Biology from the University of Arizona. She has research and practice-based experience in public health genetics, newborn screening, rare disorders, health policy, public health education and workforce development, and public health systems.

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Wanda L. Salzer, M.D.
Federal Agency Representative
Director, Congressionally Directed Medical Research Programs, U.S. Army Medical Research and Materiel Command
Fort Detrick, Maryland
Term End:
December 31, 2017

Colonel Salzer became Director, Congressionally Directed Medical Research Programs (CDMRP), US Army Medical Research and Materiel Command, Department of the Army, in 2013. She was previously the Deputy Director overseeing the neurotrauma portfolio of grants. The Duchenne Muscular Dystrophy Research Program is among the CDMRP programs that she oversees. Colonel Salzer has received numerous awards and serves on several committees. She is currently a panel member for the Militarily-Relevant Peer Reviewed Alzheimer's Disease Program whose mission is to detect traumatic brain injury (TBI)-related Alzheimer's disease and promote studies which may improve quality of life for those affected.

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M. Theresa B. San Agustin, M.D.
Federal Agency Representative
Program Manager, National Institute on Disability, Independent Living and Rehabilitation Research, Administration for Community Living
Washington, District of Columbia
Term End:
December 31, 2020

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. In her current position at the National Institute on Disability, Independent Living and Rehabilitation Research (NIDILRR) within the Administration for Community Living, Dr. San Agustin coordinates and provides leadership for the Congressionally-mandated Model Spinal Cord Injury and Field-Initiated Projects Programs. She also serves as a project officer for the Traumatic Brain Injury and Burn Model System Programs and the Rehabilitation Research and Training Center in Neuromuscular Diseases. In addition, Dr. San Agustin is a member of several advisory and federal interagency coordinating committees, and she has published widely in the New England Journal of Medicine, Journal of Burn Care and Research, and various human genetics and otolaryngology journals. She was a chapter contributor to 'Welner's Guide to the Care of Women with Disabilities', published in 2004.

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Melissa Spencer
Federal Agency Representative
Acting Deputy Associate Commissioner, Office of Disability Policy, Social Security Administration
Baltimore, Maryland
Term End:
December 31, 2018

Ms. Spencer provides direction and guidance in developing all regulations, policy, and procedures necessary to adjudicate claims for SSA’s disability program.

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