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ABSTRACT Whole genome sequencing (WGS) and whole exome sequencing (WES) are two comprehensive genomic tests which use next-generation sequencing technology to sequence most of the 3.2 billion base pairs in a human genome (WGS) or many of the estimated 22,000 protein-coding genes in the genome (WES). The promises offered from

ABSTRACT Whole genome sequencing (WGS) and whole exome sequencing (WES) are two comprehensive genomic tests which use next-generation sequencing technology to sequence most of the 3.2 billion base pairs in a human genome (WGS) or many of the estimated 22,000 protein-coding genes in the genome (WES). The promises offered from WGS/WES are: to identify suspected yet unidentified genetic diseases, to characterize the genomic mutations in a tumor to identify targeted therapeutic agents and, to predict future diseases with the hope of promoting disease prevention strategies and/or offering early treatment. Promises notwithstanding, sequencing a human genome presents several interrelated challenges: how to adequately analyze, interpret, store, reanalyze and apply an unprecedented amount of genomic data (with uncertain clinical utility) to patient care? In addition, genomic data has the potential to become integral for improving the medical care of an individual and their family, years after a genome is sequenced. Current informed consent protocols do not adequately address the unique challenges and complexities inherent to the process of WGS/WES. This dissertation constructs a novel informed consent process for individuals considering WGS/WES, capable of fulfilling both legal and ethical requirements of medical consent while addressing the intricacies of WGS/WES, ultimately resulting in a more effective consenting experience. To better understand components of an effective consenting experience, the first part of this dissertation traces the historical origin of the informed consent process to identify the motivations, rationales and institutional commitments that sustain our current consenting protocols for genetic testing. After understanding the underlying commitments that shape our current informed consent protocols, I discuss the effectiveness of the informed consent process from an ethical and legal standpoint. I illustrate how WGS/WES introduces new complexities to the informed consent process and assess whether informed consent protocols proposed for WGS/WES address these complexities. The last section of this dissertation describes a novel informed consent process for WGS/WES, constructed from the original ethical intent of informed consent, analysis of existing informed consent protocols, and my own observations as a genetic counselor for what constitutes an effective consenting experience.
ContributorsHunt, Katherine (Author) / Hurlbut, J. Benjamin (Thesis advisor) / Robert, Jason S. (Thesis advisor) / Maienschein, Jane (Committee member) / Northfelt, Donald W. (Committee member) / Marchant, Gary (Committee member) / Ellison, Karin (Committee member) / Arizona State University (Publisher)
Created2013
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In 1997, developmental biologist Michael Richardson compared his research team's embryo photographs to Ernst Haeckel's 1874 embryo drawings and called Haeckel's work noncredible.Science soon published <“>Haeckel's Embryos: Fraud Rediscovered,<”> and Richardson's comments further reinvigorated criticism of Haeckel by others with articles in The American Biology Teacher, <“>Haeckel's Embryos and Evolution:

In 1997, developmental biologist Michael Richardson compared his research team's embryo photographs to Ernst Haeckel's 1874 embryo drawings and called Haeckel's work noncredible.Science soon published <“>Haeckel's Embryos: Fraud Rediscovered,<”> and Richardson's comments further reinvigorated criticism of Haeckel by others with articles in The American Biology Teacher, <“>Haeckel's Embryos and Evolution: Setting the Record Straight <”> and the New York Times, <“>Biology Text Illustrations more Fiction than Fact.<”> Meanwhile, others emphatically stated that the goal of comparative embryology was not to resurrect Haeckel's work. At the center of the controversy was Haeckel's no-longer-accepted idea of recapitulation. Haeckel believed that the development of an embryo revealed the adult stages of the organism's ancestors. Haeckel represented this idea with drawings of vertebrate embryos at similar developmental stages. This is Haeckel's embryo grid, the most common of all illustrations in biology textbooks. Yet, Haeckel's embryo grids are much more complex than any textbook explanation. I examined 240 high school biology textbooks, from 1907 to 2010, for embryo grids. I coded and categorized the grids according to accompanying discussion of (a) embryonic similarities (b) recapitulation, (c) common ancestors, and (d) evolution. The textbooks show changing narratives. Embryo grids gained prominence in the 1940s, and the trend continued until criticisms of Haeckel reemerged in the late 1990s, resulting in (a) grids with fewer organisms and developmental stages or (b) no grid at all. Discussion about embryos and evolution dropped significantly.
ContributorsWellner, Karen L (Author) / Maienschein, Jane (Thesis advisor) / Ellison, Karin D. (Committee member) / Creath, Richard (Committee member) / Robert, Jason S. (Committee member) / Laubichler, Manfred D. (Committee member) / Arizona State University (Publisher)
Created2014
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This dissertation shows that the central conceptual feature and explanatory motivation of theories of evolutionary directionality between 1890 and 1926 was as follows: morphological variation in the developing organism limits the possible outcomes of evolution in definite directions. Put broadly, these theories maintained a conceptual connection between development and evolution

This dissertation shows that the central conceptual feature and explanatory motivation of theories of evolutionary directionality between 1890 and 1926 was as follows: morphological variation in the developing organism limits the possible outcomes of evolution in definite directions. Put broadly, these theories maintained a conceptual connection between development and evolution as inextricably associated phenomena. This project develops three case studies. The first addresses the Swiss-German zoologist Theodor Eimer's book Organic Evolution (1890), which sought to undermine the work of noted evolutionist August Weismann. Second, the American paleontologist Edward Drinker Cope's Primary Factors (1896) developed a sophisticated system of inheritance that included the material of heredity and the energy needed to induce and modify ontogenetic phenomena. Third, the Russian biogeographer Leo Berg's Nomogenesis (1926) argued that the biological world is deeply structured in a way that prevents changes to morphology taking place in more than one or a few directions. These authors based their ideas on extensive empirical evidence of long-term evolutionary trajectories. They also sought to synthesize knowledge from a wide range of studies and proposed causes of evolution and development within a unified causal framework based on laws of evolution. While being mindful of the variation between these three theories, this project advances "Definitely Directed Evolution" as a term to designate these shared features. The conceptual coherence and reception of these theories shows that Definitely Directed Evolution from 1890 to 1926 is an important piece in reconstructing the wider history of theories of evolutionary directionality.
ContributorsUlett, Mark Andrew (Author) / Laubichler, Manfred D (Thesis advisor) / Hall, Brian K (Committee member) / Lynch, John (Committee member) / Maienschein, Jane (Committee member) / Smocovitis, Vassiliki B (Committee member) / Arizona State University (Publisher)
Created2014
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Evolution is the foundation of biology, yet it remains controversial even among college biology students. Acceptance of evolution is important for students if we want them to incorporate evolution into their scientific thinking. However, students’ religious beliefs are a consistent barrier to their acceptance of evolution due to a perceived

Evolution is the foundation of biology, yet it remains controversial even among college biology students. Acceptance of evolution is important for students if we want them to incorporate evolution into their scientific thinking. However, students’ religious beliefs are a consistent barrier to their acceptance of evolution due to a perceived conflict between religion and evolution. Using pre-post instructional surveys of students in introductory college biology, Study 1 establishes instructional strategies that can be effective for reducing students' perceived conflict between religion and evolution. Through interviews and qualitative analyses, Study 2 documents how instructors teaching evolution at public universities may be resistant towards implementing strategies that can reduce students' perceived conflict, perhaps because of their own lack of religious beliefs and lack of training and awareness about students' conflict with evolution. Interviews with religious students in Study 3 reveals that religious college biology students can perceive their instructors as unfriendly towards religion which can negatively impact these students' perceived conflict between religion and evolution. Study 4 explores how instructors at Christian universities, who share the same Christian backgrounds as their students, do not struggle with implementing strategies that reduce students' perceived conflict between religion and evolution. Cumulatively, these studies reveal a need for a new instructional framework for evolution education that takes into account the religious cultural difference between instructors who are teaching evolution and students who are learning evolution. As such, a new instructional framework is then described, Religious Cultural Competence in Evolution Education (ReCCEE), that can help instructors teach evolution in a way that can reduce students' perceived conflict between religion and evolution, increase student acceptance of evolution, and create more inclusive college biology classrooms for religious students.
ContributorsBarnes, Maryann Elizabeth (Author) / Brownell, Sara (Thesis advisor) / Nesse, Randolph (Committee member) / Collins, James (Committee member) / Husman, Jenefer (Committee member) / Maienschein, Jane (Committee member) / Arizona State University (Publisher)
Created2018
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How fast is evolution? In this dissertation I document a profound change that occurred around the middle of the 20th century in the way that ecologists conceptualized the temporal and spatial scales of adaptive evolution, through the lens of British plant ecologist Anthony David Bradshaw (1926–2008). In the early 1960s,

How fast is evolution? In this dissertation I document a profound change that occurred around the middle of the 20th century in the way that ecologists conceptualized the temporal and spatial scales of adaptive evolution, through the lens of British plant ecologist Anthony David Bradshaw (1926–2008). In the early 1960s, one prominent ecologist distinguished what he called “ecological time”—around ten generations—from “evolutionary time”— around half of a million years. For most ecologists working in the first half of the 20th century, evolution by natural selection was indeed a slow and plodding process, tangible in its products but not in its processes, and inconsequential for explaining most ecological phenomena. During the 1960s, however, many ecologists began to see evolution as potentially rapid and observable. Natural selection moved from the distant past—a remote explanans for both extant biological diversity and paleontological phenomena—to a measurable, quantifiable mechanism molding populations in real time.

The idea that adaptive evolution could be rapid and highly localized was a significant enabling condition for the emergence of ecological genetics in the second half of the 20th century. Most of what historians know about that conceptual shift and the rise of ecological genetics centers on the work of Oxford zoologist E. B. Ford and his students on polymorphism in Lepidotera, especially industrial melanism in Biston betularia. I argue that ecological genetics in Britain was not the brainchild of an infamous patriarch (Ford), but rather the outgrowth of a long tradition of pastureland research at plant breeding stations in Scotland and Wales, part of a discipline known as “genecology” or “experimental taxonomy.” Bradshaw’s investigative activities between 1948 and 1968 were an outgrowth of the specific brand of plant genecology practiced at the Welsh and Scottish Plant Breeding stations. Bradshaw generated evidence that plant populations with negligible reproductive isolation—separated by just a few meters—could diverge and adapt to contrasting environmental conditions in just a few generations. In Bradshaw’s research one can observe the crystallization of a new concept of rapid adaptive evolution, and the methodological and conceptual transformation of genecology into ecological genetics.
ContributorsPeirson, Bruce Richard Erick (Author) / Laubichler, Manfred D (Thesis advisor) / Maienschein, Jane (Thesis advisor) / Creath, Richard (Committee member) / Collins, James (Committee member) / Arizona State University (Publisher)
Created2015
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The study of wasp societies (family Vespidae) has played a central role in advancing our knowledge of why social life evolves and how it functions. This dissertation asks: How have scientists generated and evaluated new concepts and theories about social life and its evolution by investigating wasp societies? It addresses

The study of wasp societies (family Vespidae) has played a central role in advancing our knowledge of why social life evolves and how it functions. This dissertation asks: How have scientists generated and evaluated new concepts and theories about social life and its evolution by investigating wasp societies? It addresses this question both from a narrative/historical and from a reflective/epistemological perspective. The historical narratives reconstruct the investigative pathways of the Italian entomologist Leo Pardi (1915-1990) and the British evolutionary biologist William D. Hamilton (1936-2000). The works of these two scientists represent respectively the beginning of our current understanding of immediate and evolutionary causes of social life. Chapter 1 shows how Pardi, in the 1940s, generated a conceptual framework to explain how wasp colonies function in terms of social and reproductive dominance. Chapter 2 shows how Hamilton, in the 1960s, attempted to evaluate his own theory of inclusive fitness by investigating social wasps. The epistemological reflections revolve around the idea of investigative framework for theory evaluation. Chapter 3 draws on the analysis of important studies on social wasps from the 1960s and 1970s and provides an account of theory evaluation in the form of an investigative framework. The framework shows how inferences from empirical data (bottom-up) and inferences from the theory (top-down) inform one another in the generation of hypotheses, predictions and statements about phenomena of social evolution. It provides an alternative to existing philosophical accounts of scientific inquiry and theory evaluation, which keep a strong, hierarchical distinction between inferences from the theory and inferences from the data. The historical narratives in this dissertation show that important scientists have advanced our knowledge of complex biological phenomena by constantly interweaving empirical, conceptual, and theoretical work. The epistemological reflections argue that we need holistic frameworks that account for how multiple scientific practices synergistically contribute to advance our knowledge of complex phenomena. Both narratives and reflections aim to inspire and inform future work in social evolution capitalizing on lessons learnt from the past.
ContributorsCaniglia, Guido (Author) / Laubichler, Manfred (Thesis advisor) / Maienschein, Jane (Thesis advisor) / Creath, Richard (Committee member) / Mitchell, Sandra (Committee member) / Arizona State University (Publisher)
Created2016
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This dissertation begins to lay out a small slice of the history of morphological research, and how it has changed, from the late 19th through the close of the 20th century. Investigators using different methods, addressing different questions, holding different assumptions, and coming from different research fields have pursued morphological

This dissertation begins to lay out a small slice of the history of morphological research, and how it has changed, from the late 19th through the close of the 20th century. Investigators using different methods, addressing different questions, holding different assumptions, and coming from different research fields have pursued morphological research programs, i.e. research programs that explore the process of changing form. Subsequently, the way in which investigators have pursued and understood morphology has witnessed significant changes from the 19th century to modern day research. In order to trace this shifting history of morphology, I have selected a particular organ, teeth, and traced a tendril of research on the dentition beginning in the late 19th century and ending at the year 2000. But even focusing on teeth would be impossible; the scope of research on this organ is far too vast. Instead, I narrow this dissertation to investigation of research on a particular problem: explaining mammalian tooth morphology. How researchers have investigated mammalian tooth morphology and what counts as an explanation changed dramatically during this period.
ContributorsMacCord, Katherine (Author) / Maienschein, Jane (Thesis advisor) / Laubichler, Manfred (Thesis advisor) / Laplane, Lucie (Committee member) / Kimbel, William (Committee member) / Creath, Richard (Committee member) / Hurlbut, Benjamin (Committee member) / Arizona State University (Publisher)
Created2017
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This dissertation investigates the convergence of the nation-state, biomedicine and (bio)capital around the construction of sickle cell disease as a subaltern disorder in the caste-based society of India. It inquires how sickle cell disease that developed evolutionarily due to environmental factors—and that is also globally racialized as a “Black disease”—has

This dissertation investigates the convergence of the nation-state, biomedicine and (bio)capital around the construction of sickle cell disease as a subaltern disorder in the caste-based society of India. It inquires how sickle cell disease that developed evolutionarily due to environmental factors—and that is also globally racialized as a “Black disease”—has come to be associated with subaltern communities, particularly the indigenous, traditionally non-Hindu Adivasi communities of India. Such a subaltern association characterizes Adivasi biologies as inherently genetically “risky” thereby providing a biopolitical mandate to the Hindu-majoritarian Indian State to carry out biomedical interventions through promissory biocapital in the name of democratic inclusion. I center on the illness narratives of subaltern sickle cell sufferers to highlight how the caste-ization of sickle cell bodies in biomedical and policy discourses, and the attendant biocapital prospecting of subaltern biologies, are nonetheless challenged by communities through their lived experiences. Viewing this association from the Adivasi standpoint—marked by continuous dispossession and displacement—illuminates not only the biopolitical governance of subaltern reproduction by the Indian State. A primary objective of my dissertation project is also to use precarity as an epistemic site for interrogating the scopes and limits of a novel biopower formed by the nexus between the State, national biomedicine and transnational biocapital. This dissertation is therefore an attempt at unearthing the subjugated knowledges of Adivasi communities regarding alternative modes of existing in the world that continuously resist the assimilatory power of race, caste and capital. In ethnographically centering narratives of suffering among doubly (socially/economically) marginalized communities, the project illuminates the contradictions between public health measures that emphasize on sickle cell management through biomedical technologies of reproductive screening and the material conditions of sickle cell sufferers struggling to access basic medical care. This dissertation therefore juxtaposes policy interventions against community articulations of reproductive freedom that posits community health work as the fulcrum for developing reproductively just ecologies. At the same time, in utilizing multi-modal and multi-sited ethnographic methods, the project also contributes towards developing decolonial and digital ethnographic methods that are attentive to the aggravated precarity of marginalized communities in a pandemic prone world.
ContributorsDas, Sanghamitra (Author) / Smith, Lindsay A. (Thesis advisor) / Quan, H.L.T. (Committee member) / Maienschein, Jane (Committee member) / Prasad, Indulata (Committee member) / Robert, Jason (Committee member) / Arizona State University (Publisher)
Created2023
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Transgenic experiments in Drosophila have proven to be a useful tool aiding in the

determination of mammalian protein function. A CNS specific protein, dCORL is a

member of the Sno/Ski family. Sno acts as a switch between Dpp/dActivin signaling.

dCORL is involved in Dpp and dActivin signaling, but the two homologous mCORL

protein functions

Transgenic experiments in Drosophila have proven to be a useful tool aiding in the

determination of mammalian protein function. A CNS specific protein, dCORL is a

member of the Sno/Ski family. Sno acts as a switch between Dpp/dActivin signaling.

dCORL is involved in Dpp and dActivin signaling, but the two homologous mCORL

protein functions are unknown. Conducting transgenic experiments in the adult wings,

and third instar larval brains using mCORL1, mCORL2 and dCORL are used to provide

insight into the function of these proteins. These experiments show mCORL1 has a

different function from mCORL2 and dCORL when expressed in Drosophila. mCORL2

and dCORL have functional similarities that are likely conserved. Six amino acid

substitutions between mCORL1 and mCORL2/dCORL may be the reason for the

functional difference. The evolutionary implications of this research suggest the

conservation of a switch between Dpp/dActivin signaling that predates the divergence of

arthropods and vertebrates.
ContributorsStinchfield, Michael J (Author) / Newfeld, Stuart J (Thesis advisor) / Capco, David (Committee member) / Laubichler, Manfred (Committee member) / Arizona State University (Publisher)
Created2019