Dr. Robin E. Casey
 BSc, MSc, MD (Saskatchewan)
Associate Professor
Departments of Medical Genetics and Paediatrics
Tel: (403) 955-2285
Fax: (403) 955-3091
Email:
Research and Clinical Interests
- Evaluation of innovative new approaches to treatment of patients with inborn errors of metabolism
- Development of programs to determine disease specific and region specific demographics of patients with inborn errors of metabolism and to apply this to planning of future program needs such as Newborn Metabolic Screening and clinical programs in the future
- Development of new approaches to monitoring of disease management in various patient populations
- Diagnosis, treatment and monitoring of patients with inborn errors of metabolism
Publications
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Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. (2006) J Med Genet. May; 43(5):385-93. Epub 2005 Jul 31.
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Francis GA, Li G, Casey R, Wang J, Cao H, Leff T, Hegele RA Peroxisomal proliferator activated receptor gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3) (2006) BMC Med Genet. Jan 14;17:3
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McCready ME, Carson NL, Charkraborty P, Clarke JT, Callahan JW, Skomorowski MA, Chan AK, Bamforth F, Casey R, Rupar CA, Geraghty MT. Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II. (2006) Mol Genet Metab. 2007 Dec;92(4):325-35 Epub 2007 Aug 27.
Research Funding
Genzyme Therapeutic Corp. Canada
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"Unrestricted Educational Grant" Ongoing
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"A Radomized Double-blind, Multi-center, Multinational, Placebo-controlled Study of Safety, Efficacy, and Pharmacogeneticfs of myozyme, Recombinant Human Acid Alpha-Glucosidase (rhGAA) Treatment in Patients with Late-Onset Pompe Disease" Ongoing
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"An Exploratory, Open-label of the safety and efficacy of high dose or high dosing frequency myozome TM (alglucosidase alfa) Treatment in patients with Pompe Disease who do not have an optimal response to the standard dose regimen" 2007-2008
CIHR
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