Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 68 for “"human genetic"”.
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An ultra-high throughput mutational spectrometer for human genetic diagnostics
Discovering the genetic causes of common diseases may require scanning for mutations in all of the genes in a million people, a significant undertaking. Such discoveries would revolutionize biotechnology, potentially enabling simple genetic tests for risk and targeted preventative or therapeutic …
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HUMAN GENETIC VARIANTS IN ESSENTIAL SPLICING FACTORS AND THEIR IMPACT ON IMMUNE PATHOLOGY
… its dysregulation has been implicated in many human diseases including neurodegenerative disorders, cancers and autoimmune diseases. Splicing is a multi-step process executed by the spliceosome, which is composed of five small nuclear ribonucleoproteins (snRNPs) and hundreds of proteins that …
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Characterizing population-level variation in mRNA splicing and implications for human genetic interpretation
… of splicing variability, and the contribution of genetic variation to this process, remains incompletely characterized. In this thesis, we seek to characterize the splicing events specifically present in a subset of the human population. We use the Genotype-Tissue Expression project (GTEx), which …
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Investigation into the Molecular Biology of Human Genetic Sensory Disorders of Painlessness and Itch
… Congenital insensitivity to pain (CIP) is a genetic sensory disorder in which the individuals are painless since birth. Various genes have been identified to be associated with CIP, but there are also several painlessness cases that remain unsolved. The author discovered a novel mutation in …
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Rhetorically Re(de)fining Dignity: Leon Kass and the American Jeremiad Against Human Genetic Enhancement
The ever-expanding science of human genetic enhancement technologies raises a host of difficult new ethical questions. Tasked with guiding America through these bioethical complexities, Leon Kass was appointed by former president George W. Bush and served as the chair of the President's Council on …
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An interdisciplinary approach leveraging human genetic variation to identify novel mechanisms of liver disease and pregnancy sickness
A major aim of human genetics in both academic in industrial spheres is to translate a genetic association to a mechanistic understanding of the disease process or trait being studied. The rewards in achieving this are large – a detailed mechanistic understanding of how genetic variation affects a …
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The impact of common and rare human genetic variants on erythrocyte invasion by Plasmodium falciparum malaria parasites
… in sub-Saharan Africa. The African population is genetically diverse, and some people carry natural variants that confer varying levels of protection against the disease. In recent years, several large-scale genome-wide association studies (GWAS) have identified novel human genetic variants (e.g., …
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Through the layers of the Ethiopian genome: a survey of human genetic variation based on genome-wide genotyping and re-sequencing data
… outstanding fossil record and richness of human diversity, the Horn of Africa and, particularly, the Ethiopian region offers an unmatched opportunity to investigate our origins from a genetic perspective. To carry out a genome-wide survey of this region, 13 out of the estimated 80 extant …
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Human genetic concept attainment in secondary biology students through the use of specifically constructed bioethical case studies and a student decision-making model
… Decision-Making Model facilitated learning genetic concepts of high school biology students. The study also sought to determine if there were a relationship between: (a) teachers' knowledge of genetics (b) student attitude towards the use of the case studies and student Decision-Making Model …
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Analysis of Cell-Cell Interactions in the Formation of Drosophila Antennal Lobes
The human orthologs of Neuroglian and Limk have been linked to human nervous system diseases, CRASH syndrome and Williams syndrome, respectively. The characterization of these two conserved genes in the Drosophila brain extends our knowledge of their cellular functions and helps to shed light on …
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EQUITABLE ACCESS TO HUMAN BIOLOGICAL RESOURCES IN DEVELOPING COUNTRIES: Benefit Sharing Without Undue Inducement.
… this thesis is: How can cross-border access to human genetic resources, such as blood or DNA samples, be governed to achieve equity for developing countries? Access to and benefit sharing for human biological resources is not regulated through an international legal framework such as the …
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On the human park
… für den Menschenpark ('Regulations for the Human Park') which is available as appended, original translation. It seeks to elucidate Sloterdijk's work, assess the theses he posits therein, and sets forth an overview on crucial developments pertaining to human society, i.e., the human park. …
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The development of peptide-based inhibitors of the low affinity Fc receptor, Fc [gamma] RIIa
… strong evidence from transgenic mouse models and human genetic susceptibility studies that implicate FcyRIIa in a number of immune diseases including, rheumatoid arthritis, systemic lupus erythematosus (SLE) and immune thrombocytopenia purpura (ITP). FcyRHa is therefore a promising target for the …
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Investigation of HIV-TB co-infection through analysis of the potential impact of host genetic variation on host-pathogen protein interactions
… both infectious diseases, such as South Africa. Human genetic variation adds further complexity, with variants affecting disease susceptibility and response to treatment. The identification of variants in African populations is affected by reference mapping bias, especially in complex regions …
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Clinical Interpretation of Novel Copy Number Variations
… Variations: CNVs) are a significant source of human genetic diversity and are believed to be responsible for a wide variety of phenotypic variation. Recent advances in microarray-based genomic hybridization techniques have facilitated CNV analysis as a viable diagnostic technique in the clinic, …
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Computational Inferences of Mutations Driving Mesenchymal Differentiation in Glioblastoma
… from high- throughput array data derived from human patients. The analysis of vast amounts of genomic and genetic data in the context of complex human genetic diseases such as Glioblastoma is a daunting task. Mutations exist by the hundreds, if not thousands, and only an unknown handful will …
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Arguing the Genome: A Topology of the Argumentation Behind the Construction of the Human Genome Project
The Human Genome Project (HGP), the name given to the scientific program to map and decode all of human genetic material, has been projected to revolutionize the conduct of biological science in the twenty-first century. For several years before its formation in 1990, a federally-funded, systematic …
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Using network clustering to predict copy number variations associated with health disparities
… Copy number variations (CNVs) are one form of human genetic variations that have been linked with complex diseases and often occur at different frequencies among African Americans and Caucasian populations. In this study, we aimed to investigate whether CNVs with differential population …
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