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Genetics and Genomics Commons

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Full-Text Articles in Genetics and Genomics

Informed Consent: Foundations And Applications, Joanna Smolenski Sep 2021

Informed Consent: Foundations And Applications, Joanna Smolenski

Dissertations, Theses, and Capstone Projects

Since its advent in the 20th century, informed consent has become a cornerstone of ethical healthcare, and obtaining it a core obligation in medical contexts. In my dissertation, I aim to examine the theoretical underpinnings of informed consent and identify what values it is taken to protect. I will suggest that the fundamental motivation behind informed consent rests in something I’ll call bodily self-sovereignty, which I argue involves a coupling of two groups of values: autonomy and non-domination on the one hand, and self-ownership and personal integrity on the other. I will then go on to consider two 'case …


Racial Becoming: How Agentic (Self-Initiated) Encounter Events Inform Racial Identity Refinement, Devin A. Heyward May 2019

Racial Becoming: How Agentic (Self-Initiated) Encounter Events Inform Racial Identity Refinement, Devin A. Heyward

Dissertations, Theses, and Capstone Projects

Racial identity literature has typically focused on identity formation through a series of stages. It also has centered how the experience of negative encounter events informs racial identity formation. With the advent of new genealogical and genomic technology, it is imperative to expand the focus of identity literatures to include encounter events, which participants elect to experience (i.e. self-initiated or agentic encounter events). By using this frame, identity processes become fluid and informed by individual life experiences. In the context of this study, direct to consumer genetic ancestry tests (DTC-GAT) are operationalized as a self-initiated encounter event. Participants were …


Underlying Contribution Of Executive Functioning To Cognition And Academic Achievement In Individuals With Dystrophinopathy, Robert Fee Sep 2018

Underlying Contribution Of Executive Functioning To Cognition And Academic Achievement In Individuals With Dystrophinopathy, Robert Fee

Dissertations, Theses, and Capstone Projects

Dystrophinopathy is a genetic disorder that results in the lack of or abnormal expression of the protein dystrophin. It is a disorder that alters cell structure and function, impacts the developing brain and brain function, presents with multi-domain cognitive deficits, and influences both mood and behavior. Cognitive impairments appear to be more localized to specific areas of functioning rather than a global deficit; however, deficits have been identified across multiple cognitive domains including language and aspects of executive functioning. A careful examination of the cognitive phenotype and its association to mutations affecting CNS isoforms is necessary to clarify the neuropsychological …