Russell J. Butterfield, M.D., Ph.D. - Pediatrics - University of Utah

Curriculum Vitae Last Updated: 08/19/2013PERSONAL DATAName: Russell J. ButterfieldCitizenship: United StatesAdded to file at faculty requestEDUCATIONYears Degree Institution (Area of Study)1990 - 1996 B.S. Brigham Young University (Microbiology)Provo, UT1996 - 2001 Ph.D. University of Illinois at Urbana-Chamaign (Immunogenetics)Urbana, IL1999 - 2004 M.D. University of Illinois (Medicine)Urbana, IL2004 - 2005 Intern University of Utah School of Medicine (Pediatrics)Salt Lake City, UT2005 - 2006 Resident University of Utah School of Medicine (Pediatrics)Salt Lake City, UT2006 - 2009 Resident University of Utah School of Medicine (Pediatric Neurology)Salt Lake City, UTBOARD CERTIFICATIONS09/28/2009 American Board of Psychiatry & Neurology (Sub: Child Neurology), CertifiedAmerican Board of Pediatrics (Pediatrics), EligibleCURRENT LICENSES/CERTIFICATIONS2005 - 2014 DEA Certificate (UT) - Physician (MD)2005 - 2014 State License (UT) - Physician (MD)2005 - 2014 Controlled Substance (UT) - Physician (MD)ACADEMIC HISTORYNeurology07/01/2009 Hire, Visitor Track, Visiting Instructor08/01/2011 Track Switch, Tenure Track - Not SpecifiedAssistant ProfessorPediatrics (Pediatric Neurology)07/01/2009 Hire, Visitor Track, Visiting Instructor08/01/2011 Track Switch, Tenure Track Assistant ProfessorPROFESSIONAL EXPERIENCEFull Time Positions1996 - 2002 Research Assistant/Graduate Student, University of Illinois at Urbana-Champaign,Urbana/Champaign, ILButterfield, Page 1

2005 - 2010 Trainee, Children's Health Research Center (CHRC), UT2009 - 2011 Visiting Instructor, University of Utah, Salt Lake City, UT2011 - Present Assistant Professor, University of Utah, Salt Lake City, UTReviewer ExperienceReviewer for Annals of NeurologyReviewer for BMC Medical GeneticsReviewer for Epilepsy ResearchSCHOLASTIC HONORS1990 University Scholar, Brigham Young University, Provo, UT1994 - 1995 Lewis Medical Foundation Award1994 - 1995 University Scholar, Brigham Young University, Provo, UT1995 Phi Kappa Phi National Honor Society1995 Golden Key National Honor Society1998 Scholarship: Summer Institute of Statistical Genetics. North Carolina StateUniversity, Raleigh, NC1999 - 2000 University Fellowship for Academic Merit and Research Potential. Graduate CollageBlock Grant Fellowship Award, University of Illinois at Urbana-Champaign2002 Carle Frances and Charles Condit Fund Award. Medical Scholars Program,University of Illinois at Urbana- Champaign2005 - 2009 Primary Children’s Medical Center Foundation Scholar2009 Neurobiology of Disease in Children Symposium: Muscular Dystrophy, YoungInvestigator Award2010 World Muscle Society International Congress, Fellowship AwardADMINISTRATIVE EXPERIENCEAdministrative Duties2010 - Present Pediatric Neurology resident selection committee2012 - Present Co-director Muscular Dytrophy Association ClinicProfessional Organization & Scientific ActivitiesGrant Review Committee/Study Section2012 - Present Ad Hoc Reviewer, Muscular Dystrophy AssociationCURRENT MEMBERSHIPS IN PROFESSIONAL SOCIETIESChild Neurology SocietyWorld Muscle SocietyFUNDINGActive Grants01/01/09 -06/30/1301/01/10 -12/31/13Clinical and molecular characterization characterization of collagen VI myopathiesPrincipal Investigator: Russell J. ButterfieldNational Institutes of Health Loan Repayment ProgramRole: Principal InvestigatorGenotype-phenotype analysis of collagen VI myopathiesPrincipal Investigator: Russell J. ButterfieldDirect Costs: $50,000 Total Costs: $50,000Butterfield, Page 2

07/01/11 -06/30/1307/01/13 -06/30/14Primary Children's Medical Center FoundationRole: Principal InvestigatorChildren’s Health Research Center Development AwardGenetic and developmental mechanisms of pediatric diseasePrincipal Investigator: Edward B. ClarkNational Institute of Child Health and Human DevelopmentRole: K12 ScholarTranscriptome profiling for identification of biomarkers in congenital musculardystrophyPrincipal Investigator: Russell J. ButterfieldDirect Costs: $19,734 Total Costs: $19,734CureCMDRole: Principal InvestigatorPending Grants04/01/14 - Present Molecular pathogenesis of collagen VI myopathies--K08Principal Investigator: Russell J. ButterfieldDirect Costs: $613,750 Total Costs: $662,850National Institute of Child Health and Human DevelopmentRole: Principal InvestigatorPast Grants01/01/05 -06/30/1007/01/09 -06/30/11Identification of genes causing a novel form of autosomal juvenile recessiveamyotrophic lateral sclerosis. (Primary Children's Foundation)Children's Health Research CenterRole: TraineeNatural history and genetic epidemiology of collagen VI related myopathiesPrincipal Investigator(s): Russell J. Butterfield; Kevin M. Flanigan; Kathryn J.SwobodaDirect Costs: $173,500 Total Costs: $173,500Muscular Dystrophy AssociationRole: Principal InvestigatorActive Contracts10/26/10 - Present An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patientswith Nonsense Mutation Dystrophinopathy (Protocol PTC124-GD-016-DMD)Principal Investigator: Russell J. ButterfieldPTC Therapeutics, Inc.Role: Principal Investigator04/01/13 - Present Duchenne Muscular Dystrophy: Double-Blind Randomized Trial to Find OptimumSteroid Regimen (FOR-DMD)Principal Investigator: Russell J. ButterfieldDirect Costs: $30,000 Total Costs: $44,850National Institute of Neurological Disorders and StrokeRole: PI04/01/13 - Present A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients withNonsense Mutation Dystrophinopathy (PTC124-GD-020-DMD)Principal Investigator: Russell J. ButterfieldDirect Costs: $41,415 Total Costs: $54,957PTC Therapeutics, Inc.Role: Principal Investigator08/01/13 - Present A Randomized, Double-Blind, Placebo-Controlled, Phase 3Trial of Tadalafil forButterfield, Page 3

Past Contracts07/01/12 -01/01/14Duchenne Muscular DystrophyPrincipal Investigator: Russell J. ButterfieldDirect Costs: $113,029 Total Costs: $149,990Eli Lilly And CompanyRole: Principal InvestigatorPhase 2b Efficacy and Safety Study of PTC124 in Subjects with Nonsense-Mutation_Mediated Duchenne Muscular Dystrophy, Protocol number PTC124-GD-007-DMDPrincipal Investigator: Russell J. ButterfieldPTC Therapeutics, Inc.Role: PITEACHING RESPONSIBILITIES/ASSIGNMENTSCourse Lectures1999 Instructor , Animal Science Department Reproductive Biology Seminar. GeneticAnalysis of Sexual Dimorphism in EAE, a Model for Multiple Sclerosis1999 - 2001 Instructor , Topics in Immunology. Lectures on Immunogenetics andimmunopathology2000 Instructor , Animal Science Department Genetics Seminar. Multiple QTL controlsusceptibility to murine EAE: a model for multiple sclerosis2001 Instructor , Animal Genetics. Lectures on approaches to mapping single andmultigene traits2011 Instructor (1): MS2013 Neurology Clerkship - Congenital Myopathy, University ofUtah2012 Instructor (1): MS2013 Neurology Clerkship - Genomic Medicine in Neurology,University of Utah2013 Instructor, H GEN6470: Clinical Genetics, University of Utah, Human Genetics.Lecture on muscular dystrophy for genetic counseling studentsClinical Teaching2009 - Present Clinical teaching for inpatient pediatric neurology service including medical students,pediatric residents, and neurology residents.2009 - Present Clinical teaching for medical students, residents, and neurophysiology fellows inMuscular Dystrophy Association clinicEducational LecturesDidactic Lectures2009 Physical Medicine and Rehabilitation, Resident lecture series. PediatricNeurologic examination2013 Neurology Resident Lecture Series: Muscle Biopsy2013 Neurology Resident Lecture Series: Genetic testing/CounselingDepartment/Division Conferences2008 Research in Progress: Department of Pediatrics: Clinical and MolecularCharacterization of Collagen VI Myopathies2010 Research in Progress, Department of Pediatrics: Clinical and MolecularCharacterization of Collagen VI Myopathies2011 Research in Progress, Department of Pediatrics: Clinical and MolecularCharacterization of Collagen VI MyopathiesButterfield, Page 4

2012 Research in Progress, Department of Pediatrics: Transcriptome profiling incollagen VI myopathyPEER-REVIEWED JOURNAL ARTICLES1. Butterfield RJ, Sudweeks JD, Blankenhorn EP, Korngold R, Marini JC, Todd JA, Roper RJ,Teuscher C. (1998). New genetic loci that control susceptibility and symptoms of experimentalallergic encephalomyelitis in inbred mice. J Immunol, 161(4), 1860-7.2. Butterfield RJ, Blankenhorn EP, Roper RJ, Zachary JF, Doerge RW, Sudweeks J, Rose J, TeuscherC. (1999). Genetic analysis of disease subtypes and sexual dimorphisms in mouse experimentalallergic encephalomyelitis (EAE): relapsing/remitting and monophasic remitting/nonrelapsing EAEare immunogenetically distinct. J Immunol, 162(5), 3096-102.3. Teuscher C, Butterfield RJ, Ma RZ, Zachary JF, Doerge RW, Blankenhorn EP. (1999). Sequencepolymorphisms in the chemokines Scya1 (TCA-3), Scya2 (monocyte chemoattractant protein(MCP)-1), and Scya12 (MCP-5) are candidates for eae7, a locus controlling susceptibility tomonophasic remitting/nonrelapsing experimental allergic encephalomyelitis. JImmunol, 163(4), 2262-6.4. Blankenhorn EP, Butterfield RJ, Rigby R, Cort L, Giambrone D, McDermott P, McEntee K,Solowski N, Meeker ND, Zachary JF, Doerge RW, Teuscher C. (2000). Genetic analysis of theinfluence of pertussis toxin on experimental allergic encephalomyelitis susceptibility: anenvironmental agent can override genetic checkpoints. J Immunol, 164(6), 3420-5.5. Butterfield RJ, Blankenhorn EP, Roper RJ, Zachary JF, Doerge RW, Teuscher C. (2000).Identification of genetic loci controlling the characteristics and severity of brain and spinal cordlesions in experimental allergic encephalomyelitis. Am J Pathol, 157(2), 637-45.6. Roper RJ, Weis JJ, McCracken BA, Green CB, Ma Y, Weber KS, Fairbairn D, Butterfield RJ,Potter MR, Zachary JF, Doerge RW, Teuscher C. (2001). Genetic control of susceptibility toexperimental Lyme arthritis is polygenic and exhibits consistent linkage to multiple loci onchromosome 5 in four independent mouse crosses. Genes Immun, 2(7), 388-97.7. Roper RJ, Ma RZ, Biggins JE, Butterfield RJ, Michael SD, Tung KS, Doerge RW, Teuscher C.(2002). Interacting quantitative trait loci control loss of peripheral tolerance and susceptibility toautoimmune ovarian dysgenesis after day 3 thymectomy in mice. J Immunol, 169(3), 1640-6.8. Butterfield RJ, Roper RJ, Rhein DM, Melvold RW, Haynes L, Ma RZ, Doerge RW, Teuscher C.(2003). Sex-specific quantitative trait loci govern susceptibility to Theiler's murineencephalomyelitis virus-induced demyelination. Genetics, 163(3), 1041-6.9. Teuscher C, Bunn JY, Fillmore PD, Butterfield RJ, Zachary JF, Blankenhorn EP. (2004). Gender,age, and season at immunization uniquely influence the genetic control of susceptibility tohistopathological lesions and clinical signs of experimental allergic encephalomyelitis: implicationsfor the genetics of multiple sclerosis. Am J Pathol, 165(5), 1593-602.10. Butterfield RJ, Ramachandran D, Hasstedt SJ, Otterud BE, Leppert MF, Swoboda KJ, FlaniganKM. (2009). A novel form of juvenile recessive ALS maps to loci on 6p25 and 21q22. NeuromusculDisord, 19(4), 279-87.11. Morita DC, Donaldson A, Butterfield RJ, Benedict SL, Bale JF Jr. (2009).Methylenetetrahydrofolate reductase gene polymorphism and childhood stroke. PediatrNeurol, 41(4), 247-9.12. Blankenhorn EP, Butterfield R, Case LK, Wall EH, del Rio R, Diehl SA, Krementsov DN,Saligrama N, Teuscher C. (2011). Genetics of experimental allergic encephalomyelitis supports therole of T helper cells in multiple sclerosis pathogenesis. Ann Neurol, 70(6), 887-896.13. Butterfield RJ, . AR Foley, J Dastgir, S Asman, D M Dunn, Y Zou, Y Hu, KM Flanigan, KJSwoboda, TL Winder, RB Weiss, CG. Bönnemann. (in press). Position of glycine substitutions in thetriple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritanceButterfield, Page 5

in collagen VI myopathies. Hum Mutat, in press.BOOK CHAPTERS1. Butterfield RJ, Hedlund G, Bale JF. (2009). Neuroimaging Techniques. In David R, Bodensteiner J,Mandelbaum D, Olson B (Eds.), Clinical Pediatric Neurology (3rd). New York: Demos MedicalPublishing.RECENTLY PUBLISHED ABSTRACTS (Last 3 Years)1. R.J. Butterfield, K. Swoboda, K.M. Flanigan, C.G. Bonnemann and R.B. Weiss. (October 2010).Frequency of genomic deletion mutations in collagen VI myopathies [Abstract]. NeuromuscularDisorders, 20(9-10), 603.2. RJ Butterfield, C Bonnemann, and RB Weiss. (2012). Transcriptome profiling identifies keyregulators of molecular pathogenesis in collagen VI myopathies [Abstract]. NeuromuscularDisorders, 22(9-10), 828.UNPUBLISHED POSTER PRESENTATIONS1. Butterfield RJ, Sudweeks JD, Blankenhorn EP, Teuscher C. (1997). Acute progressive, chronic nonremitting,remitting non-relapsing, and remitting-relapsing: four distinct disease phenotypes ofmurine EAE. Poster session presented at Autumn Immunology Conference, Chicago, IL.2. Butterfield RJ, Doerge RW, Ma RZ, Blankenhorn EP, Teuscher C. (1998). Multiple QTL on mousechromosome 11 affect susceptibility to experimental allergic encephalomyelitis: Scya1, Scya2, andScya12 are candidate genes for eae7. Poster session presented at Autumn Immunology Conference,Chicago, IL.3. Butterfield RJ, Doerge RW, Blankenhorn EP, Zachary JF, Roper RJ, Teuscher C. (1999). Multiplesexually dimorphic quantitative trait loci (QTL) control histopathology in EAE. Poster sessionpresented at FASEB Summer Research Conference on Autoimmunity, Saxtons River, VT.4. Butterfield RJ, Doerge RW, Blankenhorn EP, Zachary JF, Teuscher C. (1999). Multiple QTL controlhistopathology in EAE. Poster session presented at Keystone Symposium on Effectors ofInflammation in the CNS, Taos, NM.5. Butterfield RJ, Blankenhorn EP, Teuscher C. (2001). Serial Backcross Analysis Confirms thePresence of an EAE Susceptibility Locus on Mouse Chromosome 17 Distal of H2. Poster sessionpresented at Keystone Symposium on the Regulation of Immunity and Autoimmunity, Keystone CO.6. Butterfield RJ, Blankenhorn EP, Teuscher C. (2001). Serial Backcross Analysis Confirms thePresence of an EAE Susceptibility Locus on Mouse Chromosome 17 Distal of H2. Poster sessionpresented at 42nd Annual Short Course in Medical and Experimental Mammalian Genetics, BarHarbor, ME.7. Butterfield RJ, Foley AR, Dastgir J, Meilleur K, Weiss RB, and Bönnemann C. (2012). Genotypephenotypecorrelations in collagen VI myopathy patients with glycine substitutions in the triple helicaldomain of COL6A1, COL6A2, and COL6A3. Poster session presented at Muscular DystrophyAssociation Clinical Conference, Las Vegas, NV.ORAL PRESENTATIONSKeynote/Plenary LecturesMeeting Presentations (Not Published Abstracts and Not Unpublished Posters)International1999 Analysis of the genetic architecture of murine EAE. Scandinavian Society forImmunology, 30th Annual Meeting and 15th Summer School (Lund, Sweden)Butterfield, Page 6

Local/Regional2007 A novel form of autosomal recessive juvenile amyotrophic Lateral sclerosis maps toloci on chromosomes 6p25 and 21q22. 31st Annual Meeting Western IntermountainNeurological Organization, Salt Lake City, UT2008 Use of sulfonylureas for the treatment of developmental delay, epilepsy and neonataldiabetes (DEND) syndrome—A case for early intervention. 32nd Annual MeetingWestern Intermountain Neurological Organization, Salt Lake City, UTGrand Rounds Presentations2009 Genetics of ALS. Department of Neurology, Grand Rounds2011 Muscular Dystrophy Care/Treatment/New DevelopmentsOutreach PresentationsOTHER SCHOLARLY ACTIVITYClinical Studies2009 - Present PTC Therapudics: An Open-Label, Safety Study for Previously Treated Ataluren(PTC124) Patients with Nonsense Mutation Dystrophinopathy (Protocol PTC124-GD-016-DMD)2009 - Present Clinical and Molecular Characterization of Collagen VI Myopathies2013 - Present NIH/NINDS: Duchenne Muscular Dystrophy: Double-Blind Randomized Trial toFind Optimum Steroid Regimen (FOR-DMD)2013 - Present PTC Therapudics: A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) inPatients with Nonsense Mutation Dystrophinopathy (PTC124-GD-020-DMD)2013 - Present A Randomized, Double-Blind, Placebo-Controlled, Phase 3Trial of Tadalafil forDuchenne Muscular DystrophyButterfield, Page 7