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Samuel J. Mackenzie, M.D., Ph.D.

(Pronouns: he/his/him)

Contact Information

Phone Numbers

Appointment: (585) 276-3000

URMFGA member of the University of Rochester Medical Faculty Group

groupAn Accountable Health Partner

assignmentAccepting New Patients

Faculty Appointments

Patient Care Setting



Professional Background

Dr. 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.


Dr. 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.




    MD | SUNY Upstate College of Health Professions

    Post-doctoral Training & Residency

    07/01/2020 - 06/30/2021
    Fellowship in Neuromuscular Medicine at Ohio State University Wexner Medical Center

    07/01/2017 - 06/30/2020
    Residency in Pediatric Neurology at University of Michigan Medical School

    06/30/2015 - 06/30/2017
    Internship in Pediatrics at University of Michigan Medical School

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    Journal Articles

    Powell 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.

    Mackenzie 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.

    Mackenzie 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 & Chapters

    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 2008