The Center has ten scientists with a breadth of clinical and research expertise, working collaboratively to achieve the research and therapeutic development goals of the Center.
Dr. Charles P. Emerson, Jr., Ph.D., Center Director, is Professor of Neurology and Director of the UMMS Wellstone Muscular Dystrophy Program at UMMS.His research has led to discoveries in areas of muscle regulatory biology and skeletal myogenesis. His Center research is focused on development and use of cell models of FSHD to investigate skeletal myogenesis, disease mechanisms and therapeutic screening. He is co-PI on Projects 1, 2, and 3, Director of the Administrative Core A, Co-Director of the education and Training Core B, and Director of Resources Core C. His research leadership experience is wide-ranging including directorship of two NICHD T32 training grants, chair of the Department of Cell and Developmental Biology at Penn School of Medicine and Director of the Boston Biomedical Research Institute. Dr. Emerson has been a recipient of NIH Career Development and Merit Awards. UMMS Faculty Profile
Dr. Louis Kunkel, Ph.D., Center Co-Director, is Professor of Genetics at the Children’s Hospital of Boston and Harvard Medical School. He is a leading expert in the molecular genetics of muscular dystrophies. His many accomplishments include discovery of the Dystrophin gene responsible for Duchenne Muscular Dystrophy and the development of zebrafish models of muscular dystrophy, and he is a member of the National Academy of Science. Dr. Kunkel's expertise in human genetics will contribute to genome studies to identify FSHD modifiers in Project 1 and the CRISPR gene targeting studies he leads in Project 2. SA1 and zebrafish modeling and therapeutic studies supported in Core C. He will continue his leadership role as Co-Director in the Administrative Core A.
Dr. Robert Brown, M.D., D.Phil., Professor and Chair of Neurology at UMMS, is a preeminent leader in neuromuscular disease research whose contributions have included the identification of the SOD1 gene for familial ALS and the dysferlin gene for Miyoshi myopathy and LGMD2B. Dr. Brown will be co-director of the Center training program, providing clinical expertise for trainees on the UMMS campus. UMMS Faculty Profile
Dr. Oliver D. King, Ph.D., Assistant Professor of Neurology at UMMS, and an accomplished computational biologist with expertise in genome biology and biostatistics and an expert in FSHD. He has had an integral and essential role in all of our Center projects, in overseeing experimental design, planning and data analysis and in critical thinking. He is also a mentor to all trainees and PIs in statistical analysis and bioinformatics.UMMS Faculty Profile
Dr. Miguel Sena-Esteves, Ph.D., Associate Professor of Neurology, UMMS, is an expert in viral-mediated gene therapy and has been developing gene therapy vectors for delivery of FSHD therapeutics in Project 3. UMMS Faculty Profile
Dr. Kathryn Wagner, M.D., Ph.D., Center Co-Director, is a Professor of Neurology and Neurosciences at Johnson Hopkins School of Medicine and Director of the Center for Genetic Muscle Disorders at The Kennedy Krieger Institute. Dr. Wagner is an internationally recognized neuromuscular specialist who has devoted her career to developing novel therapies for the muscular dystrophies. This has been most notable in the field of myostatin biology where she demonstrated that absence of myostatin resulted in improved muscle regeneration and decreased fibrosis in animal models of muscular dystrophy. She has translated laboratory findings into the clinic and has been PI of multiple investigator- and industry-initiated clinical trials. She is an elected member of the American Society of Clinical Investigators and the chairperson of the international TREAT-NMD Advisory Committee for Therapeutics. Dr. Wagner now brings this translational expertise to therapeutic development for FSHD in Projects 1 and 3 and as a Co-Director of the Center and Core A, Director of the Training Core B, Co-Director of the Resources Core C.
Dr. Scott Harper, Ph.D., Associate Professor at Nationwide Childrens Hospital and Ohio State University with expertise in molecular biology and RNA-based gene therapies for muscular dystrophy including FSHD. His role is to investigate DUX4 transcription factor function and post-transitional modification as a druggable target for FSHD therapies. His lab also developed the DUX4 inducible mouse model for FSHD, and his expertise with the model will contribute to Center drug development and validation studies.
Dr. Lawrence Hayward, M.D., Ph.D. is Professor of Neurology at UMMS. His role in the Center is Director of the UMMS FSHD clinic, which is a source of FSHD patients and families for muscle biopsy and blood to contribute to studies of disease modifiers in Project 1. Dr. Hayward has research expertise in neuromuscular disease and cell and animal disease modeling. UMMS Faculty Profile
Dr. Nicholas Johnson, M.D., is Assistant Professor of Neurology, Pediatrics, Dermatology and Pathology at
the University of Utah. He has clinical expertise and research experience in clinical trial outcomes research
and implementation in muscular dystrophies. He will be partnered with Drs. Weiss and King in genome studies of the Utah FSHD patient cohort for Project 1.
Dr. Robert Weiss, Ph.D., is Professor Human Genetics at the University of Utah. His expertise and experience in genomic studies to identify modifiers of Duchenne MD will be used in Project 1 to identify FSHD modifiers in the FSHD Utah cohort in Project 1.