Center Scientists
Investigators
The Center has scientists with a breadth of clinical and research expertise, working collaboratively to achieve the research and therapeutic development goals of the Center.
Charles P. Emerson, Jr., Ph.D., Center Director, is Professor of Neurology and Director of the UMass Chan Wellstone Muscular Dystrophy Program. 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. [UMass Faculty Profile]
Louis M. 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. [BCH Lab Page]
Oliver D. King, Ph.D., Assistant Professor of Neurology at UMass Chan. He is a computational biologist with expertise in genome biology and biostatistics as well as in FSHD, and has an integral role in our Center projects, overseeing experimental design and data analysis. He is also a mentor to all trainees and PIs in statistical analysis and bioinformatics. [UMass Faculty Profile]
Scott Q. Harper, Ph.D., Associate Professor at Nationwide Children’s 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-translational 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. [NCH Faculty Profile]
Lawrence J. Hayward, M.D., Ph.D., Professor of Neurology at UMass Chan. His role in the Center is Director of the UMass Chan 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. [UMass Faculty Profile]
Robert B. Weiss, Ph.D., Professor of 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. [Utah Faculty Profile]
Russell J. Butterfield, M.D., Ph.D., Associate Professor in the Departments of Neurology and Pediatrics at the University of Utah. His clinical and research interests in genetic aspects of neuromuscular will be used in Project 1 to identify FSHD modifiers in the FSHD Utah cohort. [Utah Faculty Profile]
Former investigators
Kathryn R. Wagner, M.D., Ph.D., Vice President and Global Head of Neuromuscular Disease at F. Hoffmann La Roche. Dr. Wagner is an internationally recognized neuromuscular specialist who has devoted her career to developing novel therapies for muscular dystrophies. She is an elected member of the American Society of Clinical Investigators and former chairperson of the international TREAT-NMD Advisory Committee for Therapeutics. She was previously Professor of Neurology and Neurosciences at Johns Hopkins School of Medicine and Director of the Center for Genetic Muscle Disorders at The Kennedy Krieger Institute; during that time, Dr. Wagner contributed her expertise on therapeutic development for FSHD in Projects 1 and 3, as well as serving as Co-Director of the Center and Cores A and C and Director of the Training Core.