Identifying Novel Causes of Human Neuromuscular Disease

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atmire.migration.oldid4635
dc.contributor.advisorParboosingh, Jillian
dc.contributor.advisorInnes, A. Micheil
dc.contributor.authorSmith, Christopher
dc.contributor.committeememberLamont, Ryan
dc.contributor.committeememberHuang, Peng
dc.date.accessioned2016-09-06T21:25:20Z
dc.date.available2016-09-06T21:25:20Z
dc.date.issued2016
dc.date.submitted2016en
dc.description.abstractNeuromuscular diseases (NMDs) are a class of disorders that affect the peripheral nervous system or muscle. These conditions generally result in the loss of voluntary control of movement. They are often genetic, follow Mendelian inheritance, and to date more than 500 causative genes have been identified. Clinical and genetic heterogeneity make correct and specific diagnosis challenging. Identifying novel disease genes will likely improve diagnostic rates, especially as the use of genome scale sequencing techniques in clinical diagnostics increases. Exome sequencing is an extremely powerful tool in Mendelian disease gene discovery. We have leveraged the power of whole exome sequencing in a cohort of 16 individuals with disparate NMDs to: identify novel candidate disease genes (IARS, MSTO1, RAB11FIP2, RNMT), validate previously identified candidate disease genes (MYH14, TAF1, COQ7), propose expansions to the recognized clinical phenotypes of known genes (GLE1, DOK7), and in collaboration with clinical geneticists provide diagnosis to participant patients.en_US
dc.identifier.citationSmith, C. (2016). Identifying Novel Causes of Human Neuromuscular Disease (Master's thesis, University of Calgary, Calgary, Canada). Retrieved from https://prism.ucalgary.ca. doi:10.11575/PRISM/26432en_US
dc.identifier.doihttp://dx.doi.org/10.11575/PRISM/26432
dc.identifier.urihttp://hdl.handle.net/11023/3269
dc.language.isoeng
dc.publisher.facultyGraduate Studies
dc.publisher.institutionUniversity of Calgaryen
dc.publisher.placeCalgaryen
dc.rightsUniversity of Calgary graduate students retain copyright ownership and moral rights for their thesis. You may use this material in any way that is permitted by the Copyright Act or through licensing that has been assigned to the document. For uses that are not allowable under copyright legislation or licensing, you are required to seek permission.
dc.subjectGenetics
dc.subjectMedicine and Surgery
dc.subject.classificationGeneticsen_US
dc.subject.classificationMedical Geneticsen_US
dc.subject.classificationNeuromuscular Diseaseen_US
dc.subject.classificationCharcot-Marie-Tooth Diseaseen_US
dc.subject.classificationExomeen_US
dc.subject.classificationGene Discoveryen_US
dc.titleIdentifying Novel Causes of Human Neuromuscular Disease
dc.typemaster thesis
thesis.degree.disciplineMedical Science
thesis.degree.grantorUniversity of Calgary
thesis.degree.nameMaster of Science (MSc)
ucalgary.item.requestcopytrue
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