CONTACT INFORMATIONBIOGRAPHYCREDENTIALSPUBLICATIONSSamuel J. Mackenzie, M.D., Ph.D.(Pronouns: he/his/him)Contact InformationPhone NumbersAppointment: (585) 276-3000A member of the University of Rochester Medical Faculty GroupgroupAn Accountable Health PartnerassignmentAccepting New PatientsLocationsUniversity of Rochester Medical CenterSchool of Medicine and Dentistry601 Elmwood Ave, Box 673Rochester, NY 14642Faculty AppointmentsAssistant Professor - Department of Neurology , NMD (SMD) Assistant Professor - Department of Pediatrics (SMD) - JointAssistant Professor - Department of Neuroscience (SMD) - JointPatient Care SettingNeurologyBiographyProfessional BackgroundDr. Mackenzie completed his undergraduate studies at Cornell University before earning a Master's degree in exercise science at the University of Delaware and his MD and PhD degrees at SUNY Upstate Medical University. He completed residency in child neurology at the University of Michigan and fellowship in neuromuscular medicine at The Ohio State University and Nationwide Children's Hospital.ResearchDr. Mackenzie is a physician-scientist with clinical and research interests in pediatric neuromuscular disorders. His overall research goals involve bringing novel gene-based therapies to patients with rare conditions through a variety of basic and translational approaches. He recently received NIH-NINDS funding to study RNA-targeted oligonucleotides in murine models of myotonic dystrophy, currently serves as a sub-investigator on a phase III clinical trial for microdystrophin gene therapy for boys with Duchenne Muscular Dystrophy, and is among the nation's leading experts in TANGO2-related disorder, a rare disease caused by biallelic variants in the TANGO2 gene.CredentialsEducation2015MD | SUNY Upstate College of Health ProfessionsPost-doctoral Training & Residency07/01/2020 - 06/30/2021Fellowship in Neuromuscular Medicine at Ohio State University Dental Anesthesiology Residency07/01/2017 - 06/30/2020Residency in Pediatric Neurology at University of Michigan Medical School06/30/2015 - 06/30/2017Internship in Pediatrics at University of Michigan Medical SchoolVIEW ALL expand_morePublicationsJournal Articles6/2021Powell AR, Ames EG, Knierbein EN, Hannibal MC, Mackenzie SJ. "Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA)." Pediatric neurology.. 2021 Jun; 119:34-39. Epub 2021 Mar 08. 4/2020Mackenzie SJ, Lin CC, Todd PK, Burke JF, Callaghan BC. "Genetic testing utilization for patients with neurologic disease and the limitations of claims data." Neurology. Genetics.. 2020 Apr; 6(2):e405. Epub 2020 Feb 26. 1/2018Mackenzie SJ, Yi JL, Singla A, Russell TM, Osterhout DJ, Calancie B. "Cauda equina repair in the rat: Part 3. Axonal regeneration across Schwann cell-Seeded collagen foam." Muscle & nerve.. 2018 Jan; 57(1):E78-E84. Epub 2017 Aug 13. Books & Chapters2008 Chapter Title: Factors affecting motor development Book Title: Introduction to Human Motor Development Author List: Getchell, N., Wei, H., and Mackenzie, S. J. Published By: People's Education Press 2008VIEW ALL PUBLICATIONSClose WindowSchedule an appointment with Samuel J. Mackenzie, M.D., Ph.D.Please answer the following questions to help us find the right appointment for you.Important: If you believe that you have a medical or psychiatric emergency, please call 911 or go to the nearest hospital. This website is not intended for emergency care.Have you seen this provider in the last 2 years?YesNoExisting Patient Schedule or request a follow up appointment online through MyChart. If you do not have a MyChart account, please close this window and call the appointment phone number. Samuel J. Mackenzie, M.D., Ph.D. is currently scheduling for the following appointment type(s): Our policy does not permit patients to establish care with multiple providers within the same practice or specialty without prior approval. If you choose a new provider in the same office, we will cancel the appointment. Please contact the office directly with questions on this policy.