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Kimberly Amburgey

Title: Genetic Counsellor, Division of Neurology
Designations: MS
U of T Positions: Lecturer, Department of Molecular Genetics

Research Positions

Project Manager, Genetics and Genome Biology


Kimberly Amburgey completed her training in Genetic Counseling at the University of Pittsburgh in 2009. She began her career in the Pediatric Neuromuscular Clinic at the University of Michigan.  In 2013, she joined the Neuromuscular Clinic at The Hospital for Sick Children (SickKids) and later the Genetic Brain Malformation Clinic.  She became a faculty member in the Department of Molecular Genetics at the University of Toronto (U of T) in 2015.  In addition to her clinical and research roles, Ms. Amburgey is currently working with two rare disease groups, the Canadian Gene Cure Advanced Therapies for Rare Disease (Can-GARD) and the Neuromuscular Disease Network for Canada (NMD4C).


Ms. Amburgey is a clinical researcher in Dr. James Dowling’s neuromuscular disease research program.  She has worked on studies of the prevalence and natural history of congenital myopathies, genotype-phenotype correlations among patients with recessive RYR1 mutations, risk of malignant hyperthermia among patients with neuromuscular conditions, new gene discovery for congenital myopathies, and several clinical trials for innovative therapies for neuromuscular conditions.


  • BS, University of Michigan, Cellular and Molecular Biology
  • MS, University of Pittsburgh, Genetic Counseling
  • CGC, American Board of Genetic Counseling, Certified Genetic Counselor


  • 2009–2013: Genetic Counselor & Clinical Research Coordinator, Neurology, University of Michigan, Ann Arbor, MI, USA
  • 2013–Present: Genetic Counsellor & Project Manager, Neurology, SickKids, Toronto, ON, Canada


  1. A natural history study of X-linked myotubular myopathy. Amburgey K, Tsuchiya E, de Chastonay S, Glueck M, Alverez R, Nguyen CT, Rutkowski A, Hornyak J, Beggs AH, Dowling JJ. Neurology. 2017 Sep 26;89(13):1355-1364.
  2. Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study. Bamaga AK, Riazi S, Amburgey K, Ong S, Halliday W, Diamandis P, Guerguerian AM, Dowling JJ, Yoon G. Neuromuscul Disord. 2016 Mar;26(3):201-6.
  3. Approach to the diagnosis of congenital myopathies. North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. Neuromuscul Disord. 2014 Feb;24(2):97-116.
  4. Genotype-phenotype correlations in recessive RYR1-related myopathies. Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. Orphanet J Rare Dis. 2013 Aug 6;8:117.
  5. Prevalence of congenital myopathies in a representative pediatric united states population. Amburgey K, McNamara N, Bennett LR, McCormick ME, Acsadi G, Dowling JJ. Ann Neurol. 2011 Oct;70(4):662-5.

See a full list of Ms. Amburgey's publications

Relevant pages

Division of Neurology

Our Division strives for optimal outcomes for children with neurological conditions.

Clinical and Metabolic Genetics

We support patients and families impacted by a range of genetic disorders.


Canadian Gene Cure Advanced Therapies for Rare Disease

Staff Profile - NMD4C

Kimberly Amburgey's Neuromuscular Disease Network for Canada profile

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