Russell Butterfield, MD, PhD

Russell Butterfield, MD, PhD received his PhD in mammalian genetics, and medical degree from the University of Illinois. He completed his residency training in pediatric neurology at the University of Utah in June 2009. He is currently an Assistant Professor in the Departments of Neurology and Pediatrics, after completing a fellowship in neuromuscular disorders sponsored by the Muscular Dystrophy Association. Dr. Butterfield is board certified in Neurology with special qualification in child neurology.

Dr. Butterfield’s clinical interests include all types of neurogenetic and neuromuscular disorders with an emphasis on muscular dystrophies of childhood onset. His research interests are in understanding genetic aspects of these disorders. His current efforts are in characterization of genotype/phenotype relationships and molecular pathogenesis in collagen VI myopathies such as Bethlem myopathy and Ullrich congenital muscular dystrophy.

Nicholas Johnson, MD

Nicholas Johnson, MD, is an Assistant Professor of Neurology, Pediatrics, and Pathology at the University of Utah with a focus in inherited neuromuscular disorders.  He received his undergraduate degree in Molecular and Cellular Biology and Psychology at The University of Arizona.  He then obtained his medical degree at The University of Arizona.  He completed his neurology residency and combined fellowship in neuromuscular medicine and experimental therapeutics at The University of Rochester.

His research focuses on the disease progression and pathogenesis of myotonic dystrophy, as well as therapeutic trials in myotonic dystrophy, facioscapulohumeral muscular dystrophy, Charcot Marie Tooth disease, and spinal muscular atrophy.  He has research experience in the development of patient reported outcomes, the design and conduct of natural history studies, and clinical trials in experimental therapeutics.  He serves as chair of the Government Relations Committee for the American Academy of Neurology and is a member of their Board of Directors.  He is also a member of the American Academy of Neurology’s delegation to the American Medical Association.

Robert B. Weiss, PhD

Dr. Weiss is a Professor of Human Genetics at the University of Utah.  He has significant experience in genomics, molecular diagnostics and human genetics, and has co-authored over 120 peer-reviewed publications across broad areas of genetics and genomics research. Through collaborative efforts with Dr. Kevin M. Flanigan (Nationwide Children’s Hospital), his laboratory developed and offers comprehensive molecular diagnostics to the Duchenne muscular dystrophy community, while also participating in natural history studies of disease progression in anticipation of a new era of patient-specific therapeutics.  His laboratory’s characterization of the dystrophin mutations in a large clinical cohort has advanced the understanding of the molecular consequences of specific mutations. In a wider research context, the laboratory is investigating with other members of the research community, how modifier genes contribute to the variability of disease progression seen in patients.  As laboratory director of the CLIA-certified lab for high complexity molecular genetic diagnostics since 2003, his laboratory has returned the results over 5,000 genetic tests to patients with clinical diagnoses related to muscular dystrophy and ocular diseases.