Life Sciences Commons^™

Epigenetics A Decolonizing Science, Wade Paul

Electronic Thesis and Dissertation Repository

Epigenetics is the study of gene expression that does not entail alterations to the actual DNA. Decolonization is a theoretical and political movement that seeks to deconstruct colonial institutions and ideologies and reconstruct new and balanced approaches that accept and respect Indigenous worldviews. This project studies the decolonizing potential of epigenetics. Using genealogy as the method, the study establishes a long history of reductionist and deterministic thought that shaped the study of genetic science. Particular instances like thrift gene theory are explored to highlight how genetic explanations have been detrimental to the health and wellbeing of Indigenous people and illustrate …

Gene Discovery In Mendelian And Complex Diseases, Sali Farhan

Electronic Thesis and Dissertation Repository

Through the Finding of Rare Disease Genes in Canada (FORGE Canada) initiative, individuals affected with rare Mendelian diseases were clinically ascertained with a goal of identifying the genetic origin of their disease. Herein, I describe the methods for identifying the genetic basis of four Mendelian diseases. The application of next generation sequencing led to the discovery of non-synonymous variation in the DNA of individuals affected by rare diseases. The effects of the candidate variants were assessed using a series of functional experiments to complement the human genetics data. The variants observed in patients’ cells are extremely rare, were consistently predicted …

Resolving The Genetic Etiology Of Hypercholesterolemia In Familial Combined Hyperlipidemia, Mary A. Bamimore

Electronic Thesis and Dissertation Repository

Hypercholesterolemia is a classical risk factor for cardiovascular disease development. The genetic etiology of hypercholesterolemia in familial combined hyperlipidemia (FCH), one of the most common genetic dyslipidemias, is poorly understood. We aimed at understanding the genetic etiology of hypercholesterolemia in FCH.

Sequencing, genotyping and computational analyses were performed in a case-control setting to better understand the ‘nature’ aspect of hypercholesterolemia in FCH. My findings suggest that FCH more likely has a polygenic basis.

All my findings have shown that the genetic definition of a disease, especially relatively common diseases like FCH that have been previously considered to be monogenic, may …