The Neuromuscular Disease Network for Canada

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Kim Amburgey

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Genetic Counselor, Hospital for Sick Children

Clinical Research Coordinator, Hospital for Sick Children

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Biography

Kimberly Amburgey received her Master’s degree in genetic counseling from the University of Pittsburgh.  She is currently the genetic counselor in the Pediatric Neuromuscular Clinic at the Hospital for Sick Children in Toronto.  Kimberly is an instructor in the Department of Molecular Genetics at the University of Toronto.  She also a member of the Canadian rare disease organization, Canadian Gene Cure Advanced Therapies for Rare Disease (Can-GARD).  As a clinical researcher, 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.  She was also part of the team that created the standard of care document for congenital myopathies for physicians and the family guide.

Recent publications

Alsowat, D, Whitney, R, Hewson, S, Jain, P, Chan, V, Kabir, N et al.. The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort. Child Neurol Open. .8 2329048X211012817 PMID:34017900

Qashqari, H, Ramani, A, Gonorazky, H, Amburgey, K, Ghahramani Seno, MM, Brudno, M et al.. Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly. Neurology. 2021. PMID:34016710

Fouarge, E, Monseur, A, Boulanger, B, Annoussamy, M, Seferian, AM, De Lucia, S et al.. Hierarchical Bayesian modelling of disease progression to inform clinical trial design in centronuclear myopathy. Orphanet J Rare Dis. 2021.16 (1)3 PMID:33407688

Amburgey, K, Acker, M, Saeed, S, Amin, R, Beggs, AH, Bönnemann, CG et al.. A Cross-Sectional Study of Nemaline Myopathy. Neurology. 2021.96 (10)e1425-e1436 PMID:33397769

Al Amrani, F, Gorodetsky, C, Hazrati, LN, Amburgey, K, Gonorazky, HD, Dowling, JJ et al.. Biallelic LINE insertion mutation in HACD1 causing congenital myopathy. Neurol Genet. 2020.6 (3)e423 PMID:32426512

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