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

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

he/his/him

Contact

Appointment (585) 275-2559

About Me

I completed my undergraduate studies at Cornell University before earning a Master's degree in exercise science at the University of Delaware and my MD and PhD degrees at SUNY Upstate Medical University. I completed residency in child neurology at the University of Michigan and fellowship in neuromu...
I completed my undergraduate studies at Cornell University before earning a Master's degree in exercise science at the University of Delaware and my MD and PhD degrees at SUNY Upstate Medical University. I 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.

Faculty Appointments

Assistant Professor - Department of Neurology, NMD (SMD)

Assistant Professor - Center for Health and Technology - Joint

Assistant Professor - Department of Neuroscience (SMD) - Joint

Assistant Professor - Department of Pediatrics (SMD) - Joint

Credentials

Post-doctoral Training & Residency

Fellowship, Neuromuscular Medicine, Ohio State University Wexner Medical Center. 2020 - 2021

Residency, Pediatric Neurology, University of Michigan Medical School. 2017 - 2020

Internship, Pediatrics, University of Michigan Medical School. 2015 - 2017

Education

MD | SUNY Upstate College of Health Professions. 2015

Research

I am a physician-scientist with clinical and research interests in pediatric neuromuscular disorders. My overall research goals involve bringing novel gene-based therapies to patients with rare conditions through a variety of basic and translational approaches.

Currently, my lab is actively e...
I am a physician-scientist with clinical and research interests in pediatric neuromuscular disorders. My overall research goals involve bringing novel gene-based therapies to patients with rare conditions through a variety of basic and translational approaches.

Currently, my lab is actively engaged in the multiple projects. Prospective graduate students or post-doctoral fellows are encouraged to contact me via email.

1) TANGO2 Deficiency Disorder. Using a C. elegans model, we are focused on elucidating the cellular mechanism of TANGO2 homologs and identifiying new therapeutic approaches via high-throughput drug screening.

2) Modified tRNA Therapy for Nonsense-Mediated Duchenne Muscular Dystrophy. In collaboration with the Lueck lab, we are testing the ability of anti-codon edited tRNAs to read through premature stop codons, thereby restoring full-length dystrophin expression in human derived cell lines and mice.

3) Drivers of Repeat Instability in Myotonic Dystrophy Type 1 (DM1). In collaboration with the Thornton lab, we are investigativg phenotypic changes associated with different repeat lengths in muscle and CNS using a novel mouse model. We are also employing long-read sequencing techniques to quantify CTG repeat length at the single molecule level to better understand how repeat burden changes during germline inheritance and within somatic cells over time.

In addition to the projects above, I serve as a sub-investigator on multiple clinical trials including a phase III clinical trial for microdystrophin gene therapy for boys with Duchenne Muscular Dystrophy.

Publications

Journal Articles

Cross-species evaluation of TANGO2 homologs, including HRG-9 and HRG-10 in challenges a proposed role in heme trafficking.

Sandkuhler SE, Youngs KS, Gottipalli O, Owlett LD, Bandora MB, Naaz A, Kim E, Wang L, Wojtovich A, Gupta V, Sacher M, Mackenzie SJ

eLife.. 2026 January 814 Epub 01/08/2026.

SEZ6L2 Loss Disrupts Motor Coordination, Cognitive Function, and Synaptic Connectivity.

Granato JM, Silver N, Hobbins A, Randolph J, Stout A, Gelbard HA, Gunnersen JM, Mackenzie SJ, White PM, Hammond JW

bioRxiv : the preprint server for biology.. 2026 January 1 Epub 01/01/2026.

Heart Transplantation and Ventricular Assist Device in Duchenne Muscular Dystrophy: A New Era.

Rosenthal DN, Amodeo A, Butterfield RJ, Butts R, Chrzanowski S, Cripe L, Day J, Davies R, Duong T, Evers P, Gambetta K, Harris R, Hayes E, Kaufman B, Lorts A, Mack G, Mackenzie SJ, Mammen P, Markham L, McAlister J, McDonald C, Nakano SJ, Nandi D, Navaratnam M, Nelson S, Parent JJ, Piccoli C, Richmond M, Rocha C, Sawnani H, Schrader R, Shell R, Shih R, Shugh S, Smart T, Soslow J, Spinner J, Taivassalo T, Tunugtla H, VanderPluym C, Veerapandiyan A, Villa C, Wittlieb-Weber C, Zafarullah M, Hollander S

Pediatric transplantation.. 2026 January 30 (1):e70253. Epub 1900 01 01.

TANGO2 deficiency disorder in a 61-year-old male with episodic weakness, rhabdomyolysis, myotonia, and a novel missense variant.

Skocy H, McFerren A, Cairns D, Kenney HM, Tallis E, Dhamoon AS, Garbade E, Mackenzie SJ

Molecular genetics and metabolism reports.. 2025 September 44 :101241. Epub 07/04/2025.

Mitochondrial mayhem: Disrupting conserved N-terminal motifs in TANGO2 impacts its localization and function.

Sandkuhler SE, Mackenzie SJ

The Journal of cell biology.. 2025 May 5224 (5)Epub 04/15/2025.

Transitioning From Nusinersen to Risdiplam for Spinal Muscular Atrophy in Clinical Practice: A Single-Center Experience.

Bekircan-Kurt CE, Subramanian S, Chagat S, Mackenzie SJ, Iammarino M, Reash N, Richardson C, Tsao CY, Noritz G, Gushue C, Kotha K, Paul G, Shell R, Alfano LN, Lowes LP, Connolly AM, Waldrop MA

Muscle & nerve.. 2025 March 71 (3):414-421. Epub 01/02/2025.

Heme's relevance genuine? Re-visiting the roles of TANGO2 homologs including HRG-9 and HRG-10 in .

Sandkuhler SE, Youngs KS, Owlett L, Bandora MB, Naaz A, Kim ES, Wang L, Wojtovich AP, Gupta VA, Sacher M, Mackenzie SJ

bioRxiv : the preprint server for biology.. 2024 November 22 Epub 11/22/2024.

Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome.

Owlett LD, Zapanta B, Sandkuhler SE, Ames EG, Hickey SE, Mackenzie SJ, Meisner JK

American journal of medical genetics. Part A.. 2024 October 194 (10):e63778. Epub 06/03/2024.

TANGO2 deficiency disease is predominantly caused by a lipid imbalance.

Sacher M, DeLoriea J, Mehranfar M, Casey C, Naaz A, Gamberi C

Disease models & mechanisms.. 2024 June 117 (6)Epub 06/05/2024.

Top Stories on arrhythmias in TANGO2 deficiency disorder.

Miyake CY, Mackenzie SJ, Zhang L

Heart rhythm.. 2024 May 21 (5):707-709. Epub 1900 01 01.

Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.

Miyake CY, Ehsan SA, Zhang L, Mackenzie SJ, Azamian MS, Scott DA, Hernandez-Garcia A, Lalani SR

American journal of medical genetics. Part A.. 2023 September 191 (9):2433-2439. Epub 07/08/2023.

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.

Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck K, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali C, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson C, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie S, Sacher M, Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian M, Lalani SR

Genetics in medicine : official journal of the American College of Medical Genetics.. 2023 April 25 (4):100352. Epub 12/05/2022.

B-complex vitamins for patients with TANGO2-deficiency disorder.

Sandkuhler SE, Zhang L, Meisner JK, Ghaloul-Gonzalez L, Beach CM, Harris D, de Lonlay P, Lalani SR, Miyake CY, Mackenzie SJ

Journal of inherited metabolic disease.. 2023 March 46 (2):161-162. Epub 12/30/2022.

The 4-Copy Conundrum in the Treatment of Infants with Spinal Muscular Atrophy.

Deng S, Lee BH, Ciafaloni E, Mackenzie SJ

Annals of neurology.. 2022 June 91 (6):891. Epub 04/09/2022.

Benefits of aerobic exercise in myotonic dystrophy type 1.

Mackenzie SJ, Hamel J, Thornton CA

The Journal of clinical investigation.. 2022 May 16132 (10)Epub 1900 01 01.

Autoimmune/Inflammatory Syndrome Induced by Adjuvants (ASIA) following SARS-CoV2 vaccination

Bajwa, J.S.; Harp, J.; Mackenzie, S.J.; Thiele, R.

Brown Hospital Medicine. 2022; 1(4).

Symptom Prevalence and Genotype-Phenotype Correlations in Patients With TANGO2-Related Metabolic Encephalopathy and Arrhythmias (TRMEA).

Powell AR, Ames EG, Knierbein EN, Hannibal MC, Mackenzie SJ

Pediatric neurology.. 2021 June 119 :34-39. Epub 03/08/2021.

Therapeutic Approaches for Duchenne Muscular Dystrophy: Old and New.

Mackenzie SJ, Nicolau S, Connolly AM, Mendell JR

Seminars in pediatric neurology.. 2021 April 37 :100877. Epub 02/11/2021.

Genetic testing utilization for patients with neurologic disease and the limitations of claims data.

Mackenzie SJ, Lin CC, Todd PK, Burke JF, Callaghan BC

Neurology. Genetics.. 2020 April 6 (2):e405. Epub 02/26/2020.

Cauda equina repair in the rat: Part 3. Axonal regeneration across Schwann cell-Seeded collagen foam.

Mackenzie SJ, Yi JL, Singla A, Russell TM, Osterhout DJ, Calancie B

Muscle & nerve.. 2018 January 57 (1):E78-E84. Epub 08/13/2017.

Innervation and function of rat tail muscles for modeling cauda equina injury and repair.

MacKenzie SJ, Yi JL, Singla A, Russell TM, Calancie B

Muscle & nerve.. 2015 July 52 (1):94-102. Epub 05/29/2015.

Cauda equina repair in the rat: part 2. Time course of ventral root conduction failure.

Mackenzie SJ, Smirnov I, Calancie B

Journal of neurotrauma.. 2012 May 2029 (8):1683-90. Epub 05/05/2011.

Short term auditory pacing changes dual motor task coordination in children with and without dyslexia.

Getchell N, Mackenzie SJ, Marmon AR

Adapted physical activity quarterly : APAQ.. 2010 January 27 (1):32-46. Epub 1900 01 01.

Using grasping tasks to evaluate hand force coordination in children with hemiplegic cerebral palsy.

Mackenzie SJ, Getchell N, Modlesky CM, Miller F, Jaric S

Archives of physical medicine and rehabilitation.. 2009 August 90 (8):1439-42. Epub 1900 01 01.

Multi-limb coordination and rhythmic variability under varying sensory availability conditions in children with DCD.

Mackenzie SJ, Getchell N, Deutsch K, Wilms-Floet A, Clark JE, Whitall J

Human movement science.. 2008 April 27 (2):256-69. Epub 04/03/2008.

Teaming up for senior fitness: A group-based approach

Orsega-Smith, E., Getchell, N., Neeld, K., Mackenzie, S. J.

Journal of Physical Education, Recreation and Dance. 79: 39-44.

Books

Introduction to Human Motor Development (2008)

Chapter: Factors affecting motor development

Authors: Getchell, N., Wei, H., and Mackenzie, S. J.

Publisher: People's Education Press 2008