Levesque Sebastian
Regular Professor
Department of Pediatrics / Department of Genetics
University of Sherbrooke
Canada
Biography
New strategy for the diagnosis of patients with Pompe disease using new generation sequencing (Genzyme corp). The Peroxisome Biogenesis Disorders: From Bench to Bedside (CIHR). Clinical application of exome sequencing for the molecular diagnosis of polymalformative syndromes (Star Foundation). Development of a molecular diagnostic platform for Zellweger syndrome in Quebec (Fondation Go, The Grand Défi Pierre Lavoie).
Research Interest
Clinical genomics is currently in full swing with the development of new sequencing technologies, which are particularly powerful for the analysis of rare diseases caused by multiple genes. However, the clinical application of these large-scale technologies is confronted with various issues such as consent, accidental findings and the prediction of causal mutations among a massive amount of variation. Levesque's laboratory is interested in these sequencing technologies that revolutionize the practice of medical genetics and their clinical applications in the context of the following groups of genetic disorders: polymorformative syndromes in the fetus and the child, peroxisomal and Lysosomal diseases.
Publications
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Lévesque S, Lambert M, Karalis A, Melancon S, Russell L, Braverman N. Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients. InJIMD Reports-Case and Research Reports, 2011/2 2011 (pp. 97-102). Springer Berlin Heidelberg.
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Trakadis YJ, D’Agostino DM, Braverman NE, Lévesque S, Morinville V. Case 1: Recurrent acute liver dysfunction in a 19-month-old boy. Paediatrics & child health. 2012 May 1;17(5):247-8.
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Trakadis YJ, Buote C, Therriault JF, Jacques PÉ, Larochelle H, Lévesque S. PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes. BMC medical genomics. 2014 May 12;7(1):22.
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Lévesque S, Auray-Blais C, Gravel E, Boutin M, Dempsey-Nunez L, Jacques PE, Chenier S, Larue S, Rioux MF, Al-Hertani W, Nadeau A. Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. Orphanet journal of rare diseases. 2016 Jan 25;11(1):8.
