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Scientific Advisory Committee (SAC)
Parent Project Muscular Dystrophy has reorganized its review activities into a single standing Scientific Advisory Committee (SAC). The SAC review(s) the Exploratory Awards and the scientific rationale for Corporate Drug Development Grants. The committee, chaired by PPMD Senior Scientific Advisor Dr. Lee Sweeney, includes leading experts in basic and clinical Duchenne research and Duchenne clinical management.
PPMD takes pride in continuing to bring together the greatest researchers in Duchenne and the Committee members themselves are enthusiastic to participate. Jerry R. Mendell, M.D. says, “It is a privilege to serve on the PPMD Scientific Advisory with the range of expertise represented by its members. The Committee has exceptional depth, with representation throughout a range of disciplines, from molecular biochemistry to clinical trials, all linked by a common mission - helping boys with Duchenne muscular dystrophy. I think this will be an incredibly productive experience for both committee members and for PPMD.”
Meet the Scientific Advisory Committee:
his accomplishments on molecular motors was the first visualization of structural rearrangement of the myosin lever arm, a detailed analysis of how processive myosins are engineered, a demonstration of the structural changes induced by actin-binding and nucleotide release, and the discovery and molecular dissection of the only known reverse-direction myosin.
Much of Dr. Sweeney’s research program is translational in focus, and has produced highly cited research on inherited forms of cardiovascular disease, and on the skeletal and cardiac aspects of muscular dystrophy. Dr. Sweeney was elected as a Fellow of the American Heart Association in 2001. He has been Director of a Paul Wellstone Muscular Dystrophy Cooperative Center since 2005, which is now the University of Florida (UF) Wellstone Muscular Dystrophy Cooperative Center. Dr. Sweeney is actively developing therapeutics for rare diseases that include both small molecule and gene therapy approaches. He serves as a consultant to a number of industry therapeutic development efforts for Duchenne muscular dystrophy and Spinal Muscular Atrophy.
Linda Cripe, MD
section of The Neurosciences Center at Nationwide Children’s Hospital. Dr. Cripe completed her residency at the University of Iowa Hospitals and Clinics. She served as a pediatric cardiology fellow at the University of Iowa Hospitals and Clinics, and at Children’s Hospital Boston. Before coming to Nationwide Children’s, Dr. Cripe spent 12 years at Cincinnati Children’s Hospital Medical Center. Dr. Cripe’s clinical interests focus on non-invasive cardiac imaging specifically echocardiography as well as on the care and treatment of cardiomyopathy associated with neuromuscular disease, such as Duchenne muscular dystrophy. She was a member of the Centers for Disease Control (CDC) National Steering Committee Duchenne Muscular Dystrophy Standards of Care, and has been an invited lecturer nationally and internationally on cardiomyopathy related to DMD.
John W. Day, M.D., PhD
and neuromuscular disease at the University of California in San Francisco, Dr. Day founded and directed the Paul and Sheila Wellstone Muscular Dystrophy Center at the University of Minnesota before moving to Stanford in 2011. The combined pediatric and adult muscular dystrophy clinics at Stanford Hospital and Clinics, and the Lucille Packard Children’s Hospital at Stanford, provide comprehensive care and support for affected individuals and their families, while providing opportunities for involvement in cutting-edge research. Dr. Day has more than 20 years experience in Duchenne muscular dystrophy patient care and clinical research, as well as having collaborated on many translational investigations of muscular dystrophies with basic scientists at the University of Minnesota, and now at Stanford.
Dongsheng Duan, PhD
the University of Missouri School of Medicine. Dr. Duan received his medical training in China from the West China University of Medical Sciences in 1987 and his Ph.D. from the University of Pennsylvania in 1997. His major research interest is to develop adeno-associated virus (AAV)-based gene therapy for Duchenne muscular dystrophy. Dr. Duan was the first to demonstrate that AAV is an episomal vector, a critical safety feature of the AAV vector. Dr. Duan has invented a number of dual vector technologies to double AAV packaging capacity for large genes (such as the dystrophin gene). Dr. Duan’s lab pioneered Duchenne cardiomyopathy gene therapy and bodywide AAV gene delivery in large mammals. Dr. Duan’s lab also identified the pivotal nNOS-binding site in dystrophin and developed new mini-/micro-dystrophin vectors with improved therapeutic efficacy. Current research efforts in Dr. Duan’s lab are focused on scaling-up AAV gene therapy in the symptomatic canine DMD model in the hope of bridging the translational gap between mice and human patients. Dr. Duan has received a number of awards including Spurgeon Distinguished Medical Research Award in 2004, Outstanding New Investigator Award from the American Society of Gene Therapy in 2006, and Chancellor’s Award for Outstanding Research and Creative Activity from the University of Missouri in 2009. Dr. Duan has edited two books entitled “Muscle Gene Therapy” and “Muscle Gene Therapy: Methods and Protocols”.
the health occupations and license health professionals in Maryland. He is also a member of the 2016 PPMD Adult Advisory Committee. Brett was diagnosed with Becker muscular dystrophy at age 9. Brett received his B.S. in Justice Studies from Arizona State University in 2003 and his J.D. from the University of Texas School of Law in 2007. After graduating law school, Brett clerked for the Honorable Diane M. Johnsen on the Arizona Court of Appeals and worked as the inaugural Disability Rights Fellow at Brown, Goldstein & Levy, LLP. Brett previously served on the Board of Directors of the Maryland Disabilities Forum, and he currently sits on the Board of Directors of the American Civil Liberties Union of Maryland and serves as the Board’s Affirmative Action Officer. Brett also serves as volunteer facilitator of a teen support group with the Muscular Dystrophy Association in Baltimore.
Jonathan Finder, MD
he has been on faculty since 1993. Dr. Finder was the first author of the 2004 American Thoracic Society Consensus Statement on the respiratory management of patients with Duchenne muscular dystrophy and many other publications concerning respiratory aspects of this disease. Dr. Finder is also a member of the Academy of Master Educators at the University of Pittsburgh School of Medicine and a long-time medical educator. Dr. Finder’s career focus has been in respiratory complications of neuromuscular disease. He is the father of two teen-aged sons and married to Jana Finder, an attorney. In addition to being an avid cyclist Dr. Finder enjoys playing bluegrass banjo.
Stanley C. Froehner, PhD
the UW department in 2000, he was chair of the Department of Cell and Molecular Physiology at the University of North Carolina at Chapel Hill. Dr. Froehner received his Ph.D. at Caltech and did postdoctoral research in neurobiology at Harvard Medical School. His laboratory studies the dystrophin complex, focusing on its function as a signaling scaffold that is especially important in skeletal muscle health and disease. Current studies in the Froehner laboratory address the role of nitric oxide (NO) in muscle function, the elucidation of the downstream NO signaling pathways altered in muscular dystrophies, and the role of oxidative stress in the pathophysiology of DMD. The Froehner lab also conducts preclinical studies for repurposing of existing drugs that have potential therapeutic impact on dystrophic skeletal muscle and cardiac dysfunction.
Rose Juhasz, PhD
experience in the study and support of personalized medicine in both pediatric and adult populations within the areas of neuro-otology, psychiatry, and oncology. Rose holds a doctorate in cognitive experimental psychology and has additional experience in health services and patient-centered outcomes research. Her professional expertise is in federally-funded research program and infrastructure development and management of large, multidisciplinary teams with community, industry, and disease registry partners. Rose currently provides oversight and coordination of all administrative and scientific activities related to a $13.2M National Cancer Institute research program involving population-based observational studies and behavioral, randomized clinical trials. At the University of Michigan, she serves with numerous parents, clinical staff, and clinician-scientists on a Transitions Initiative to help develop and evaluate standards for transitioning complex pediatric cases to adult care. Rose is on the consumer review panel for the Department of Defense Duchenne Muscular Dystrophy Research Program.
Robert J. McDonald, MD
experience in basic and clinical science research and serves on various advisory and review boards of Duchenne foundations and in the pharmaceutical industry regarding drug development in Duchenne and Becker muscular dystrophies.
Elizabeth McNally MD, PhD
Medicine where she directs the Center for Genetic Medicine. Dr. McNally is a cardiologist who specializes in caring for inherited forms of heart disease including the cardiovascular complications of neuromuscular disease. Dr. McNally’s research has been to identify genes and the mechanisms by which genetic defects lead to heart and muscle disease. A major focus in the laboratory is now to uncover genetic pathways that modify the outcome of neuromuscular disease and its cardiac complications. Dr. McNally was president of the American Society for Clinical Investigation (2011-2012), and the Association of American Physicians. Dr. McNally has been recognized as an Established Investigator of the American Heart Association and as a Distinguished Clinical Scientist by the Doris Duke Charitable Foundation.
Jerry R. Mendell, MD
Children's Hospital and Director of Neuromuscular Disease. He holds academic appointments at The Ohio State University (OSU) in the Departments of Pediatrics, Neurology, Pathology and Physiology and Cell Biology. Dr. Mendell was among the first to test muscle cell transplantation for Duchenne muscular dystrophy in the early 1990s and is the first person to study viral mediated gene therapy for muscular dystrophy in humans. Current and completed gene therapy trials include both local and vascular delivery of vector carrying the transgenes for dystrophin, alpha-sarcoglycan, and follistatin. He has successfully demonstrated the efficacy of exon skipping in DMD using a Phosphorodiamidate Morpholino Oligomer (PMO; eteplirsen product of Sarepta Therapeutics®) after more than 3 years of continuous treatment. He is currently the Principal Investigator on the first viral mediated gene transfer for spinal muscular atrophy. Dr. Mendell has made fundamental contributions in clinical research and in the molecular genetics of neuromuscular disease. He has published major textbooks on the disorders of muscle and peripheral nerves along with more than 325 scientific articles and 15 book chapters. In 2004, Dr. Mendell was awarded the S. Mouchly Small Scientific Achievement Award from the Muscular Dystrophy Association in recognition of his significant contributions to neuromuscular disease research.
Carrie Miceli, PhD
and a Ph.D. in Immunology from Duke University studying T cell mechanisms of human kidney allograft rejection. Her postdoctoral work at Stanford University focused on the molecular basis of T cell recognition. Since her appointment at UCLA in 1993, her lab has investigated the cellular and molecular basis of T cell immunity. More recently she has developed an interest in the role of inflammation in the pathogenesis of Duchenne muscular dystrophy. In addition to contributing to understanding mechanisms of T cell activation and tolerance, her research has had broad relevance to cell biology and signal transduction. In 2004, together with Dr. Nelson, Dr. Miceli developed an ongoing program designing and implementing cellular assays for high throughput small molecule screening for DMD-drug discovery, with one emphasis being identifying enhancers of therapeutic Duchenne exon skipping.
Joseph (Jody) Puglisi, PhD
The goal is to understand RNA function in terms of molecular structure and dynamics using a variety of biophysical and biological tools. The group uses nuclear magnetic resonance (NMR) spectroscopy to determine structures of biological molecules, and integrate structural understanding into further mechanistic and functional studies. Dr. Puglisi investigates dynamics using single-molecule approaches. The goal is a unified picture of structure, dynamics, and function. He and his group are currently focused on the mechanism and regulation of translation, and the role of RNA in viral infections. A long-term goal is to target processes involving RNA with novel therapeutic strategies. He received a Ph.D in Biophysical Chemistry from UC Berkeley, and is a member of the National Academy of Sciences.
Jill Rafael-Fortney, PhD
The overall goal of her laboratory is to identify novel treatment strategies for both skeletal muscles and the heart in Duchenne muscular dystrophy (DMD) patients. Her lab uses mouse models to unravel the molecular pathogenesis of DMD, identify novel molecular treatment targets, and test potential therapeutic approaches. She was the recipient of a prestigious Burroughs Wellcome Fund Career Award and an American Heart Association Established Investigator Award. Her research is currently supported by the NIH and DOD, and has also been supported the Muscular Dystrophy Association, Parent Project Muscular Dystrophy, and CureDuchenne. She has published over 50 papers on muscular dystrophy and cardiomyopathy in peer-reviewed journals. In addition, she has supported the development of many young scientists and has participated in a variety of advocacy and outreach activities to convey the importance of biomedical research. Dr. Fortney received her B.A. from Cornell University, her Ph.D. from the Department of Human Genetics at the University of Michigan, and carried out her postdoctoral training at the University of Oxford, England.
Melissa Spencer, PhD
The Spencer Lab research program focuses on gaining mechanistic insights for the muscular dystrophies, and applying that knowledge towards therapeutic interventions. The lab has a particular interest in the contribution of the immune system to muscular dystrophy pathogenesis and fibrosis and has identified osteopontin as a potential therapeutic target for Duchenne. More recent studies involve gene correction of the dystrophin gene by CRISPR/Cas9 in iPSCs with Dr. April Pyle at UCLA and collaborative work with Drs. M. Carrie Miceli and Stanley Nelson on exon skipping therapies for Duchenne. Dr. Spencer is currently a Professor of Neurology and a Co-director, along with Drs. Miceli and Nelson, for the Center for Duchenne Muscular Dystrophy at UCLA, which is a translational center that supports both basic and clinical research.
Kathryn R. Wagner, MD, PhD
Johns Hopkins School of Medicine. She treats patients with muscular dystrophies in a multidisciplinary clinic, addressing the multiple medical and social issues affecting these individuals and families. Dr. Wagner conducts clinical trials in muscular dystrophy including the first clinical trial of nonsense suppression in Duchenne and the first clinical trial of myostatin inhibition in adult muscular dystrophy. Dr. Wagner’s laboratory focuses on developing methods to promote muscle regeneration. A major emphasis of her laboratory has been on modulating myostatin, an endogenous regulator of muscle. Dr. Wagner’s laboratory has shown that inhibition of myostatin stimulates muscle stem cells, improving muscle regeneration while reducing fibrosis in animal models of muscular dystrophy. Current efforts include collaborations with industry to combine stem cell and pharmacological therapies for enhanced regeneration.
Greg Wilde, MD
His older son David was diagnosed with DMD in 2014.
Following medical school at Georgetown University, Dr. Wilde completed his residency in Diagnostic Radiology at Christiana Care Health System, Delaware. He then completed a fellowship in Musculoskeletal Radiology at Hospital for Special Surgery, New York.
Dr. Wilde specializes in the diagnosis of bone and joint disorders related to podiatry, sports medicine, physiatry, orthopedics, and rheumatology. He is proficient in MRI, CT, and radiographic diagnosis of musculoskeletal disorders with special expertise in diagnostic and interventional musculoskeletal ultrasound.
Dr. Wilde serves on the ultrasound practice accreditation committee for the American Institute of Ultrasound in Medicine (AIUM). He is also a member of the American Roentgen Ray Society (ARRS). He is a reviewer for the American Journal of Roentgenology (AJR) and Skeletal Radiology.
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