Center Scientists

Investigators

The Center has eight 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 Cell and Developmental Biology and Neurology at the University of Massachusetts Medical School. Dr. Emerson is a leader in molecular and developmental biology of skeletal myogenesis using cell culture and animal models. He leads the FSHD Cell Repository Program with Dr. Wagner in Core C, leads Project 2 to identify biomarkers of FSHD muscle pathology, and has developed cell and xenograft models of FSHD in Project 3 to develop therapeutic drugs.

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. He will lead Project 3 in a therapeutics development project to use zebrafish as a model to identify developmental targets of DUX4 misregulation, and collaborate in biomarker discovery in Project 2 and modifier gene identification in Project 1.

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.

Dr. Peter L. Jones, Ph.D., Associate Professor of Cell and Developmental Biology & Neurology at UMMS, is a leading investigator in the molecular pathology of FSHD and its epigenetic modifiers, in Project 2.

Dr. Oliver D. King, Ph.D., Assistant Professor, Departments Cell and Developmental Biology & Neurology at UMMS, is a computational biologist with expertise in genome biology and biostatistics and collaborates in the planning and analyses of genome and transcriptome studies of families with FSHD carriers in Projects 1 and 2.

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.

Dr. Rossella Tupler, M.D., Ph.D., Associate Professor of University of Modena and Reggio Emilia, Modena, Italy & Research Assistant Professor of Program in Gene Expression and Function at UMMS, is a clinical geneticist with expertise in FSHD genetics. She is engaged in clinical and genetic studies to characterize FSHD genetic carriers to identify genetic modifiers of disease severity in Project 1.

Dr. Kathryn Wagner, M.D., Ph.D., Director, Center for Genetic Muscle Disorders, The Kennedy Krieger Institute; and Associate Professor, Department of Neurology and Neuroscience, The Johns Hopkins School of Medicine, is a leader in FSHD research and clinical care. She leads the Center’s clinical and biopsy programs and is Project 1 leader in genetic and exome sequencing studies to identify modifiers of disease severity in FSHD families with genetic carriers. Dr. Wagner collaborates on Project 3, using humanized xenograft models for preclinical gene therapy studies to develop FSHD therapeutics. She is also Director of the Education and Training Core and mentor to clinical scientists in our program.