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 71 for “"Genetic diseases"”.
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Evaluation of Knowledge Regarding Diagnostic Strategies For Genetic Diseases In Select Residents
<p>Genetics education for physicians has been a popular publication topic in the United States and in Europe for over 20 years. Decreasing numbers of medical genetics professionals and an increasing volume of genetic information has created a dire need for increased genetics training in medical …
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A Multimodal Graph Convolutional Approach to Predict Genes Associated with Rare Genetic Diseases
There exist a large number of rare genetic diseases in humans. Our knowledge of the specific gene variants whose presence in the genome of a person predisposes them towards developing a disease, called gene associations, is incomplete. Computational tools which can predict genes which may be …
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A PERTURB-SEQ SATURATION MUTAGENESIS APPROACH TO DISSECT THE MOLECULAR BASES OF GENETIC DISEASES
… and the therapeutic treatments of rare genetic diseases, which research is hampered by the limited cohort of diagnosed patients and by the difficulty of evaluating the effect of Variants of Unknown Significance (VUS). In silico predictors represent the gold standard of clinical bodies …
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Using Chemically Modified Oligonucleotides to Modulate Gene Expression, Treat Genetic Diseases, and Probe Novel Mechanisms of RNA Interference
… that could open new doors to finding a cure for genetic diseases such as HD.
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Analysis of Cell-Cell Interactions in the Formation of Drosophila Antennal Lobes
… 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 the pathology of human genetic …
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Prioritisation of candidate genes for psychiatric disorders
… success in identifying causal genes for complex diseases. Bipolar disorder is one such disease whose aetiology has not been elucidated despite the application of these technologies. Candidate gene prioritisation offers a solution to limit the vast amount of possible candidate genes produced from …
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Computational Inferences of Mutations Driving Mesenchymal Differentiation in Glioblastoma
… 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 contribute to the disease in a significant way. The goal of …
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Understanding Ontogeny and Optimizing Strategies to Promote Hematopoietic Engraftment Following In Utero Transplantation
… disease-dependent organ damage/failure that many genetic diseases can exert during gestation. Clinical experiences show that IUHSCTx can successfully treat certain immune deficiencies. However, the relatively low levels of engraftment of hematopoietic stem cells (HSC) following IUHSCTx have …
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Identifying protein complexes and disease genes from biomolecular networks
… networks is also given in this study. Secondly, genetic diseases often involve the dysfunction of multiple genes. Various types of evidence have shown that similar disease genes tend to lie close to one another in various biomolecular networks. The identification of disease genes via multiple …
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Developing Methods for Enhanced Measurement of DNA Single-Strand Breaks and Somatic Variants
… to aging phenotypes and can result in genetic diseases such as cancer. The rate at which a cell develops mutations can be accelerated through exposure to genotoxic agents that introduce lesions which, if left unrepaired, prevent accurate replication of the genome. As such, it is crucial …
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Shared Haplotype Length Regression and Its Application
The inherent multidimensional nature of complex genetic diseases calls for the development of new statistical methods designed to discover some components of the “missing heritability” problem. Here, we develop and explore the performance of a novel statistical approach based on haplotype sharing …
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Effects of type-I collagen fractional composition and pyridinium crosslink content on cortical bone strength in the human femur
… strength have been well documented by studies in genetic diseases such as Osteogenesis Imperfecta. Type-I collagen's role in healthy bone, and the changes that occur to collagen during aging, which may eventually lead to osteoporosis, is less understood. Changes that may occur include differences …
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Owning the code of life : human gene patents in America
… of Association of Molecular Pathology v. Myriad Genetics. The case asked one question: are human genes patentable? Gene patents became commonplace during the biotechnology revolution of the 1980s, but generated a complex web of moral, legal, and biological questions. While some viewed gene …
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Immune Dysfunction in Cystic Fibrosis
… is one of the most widespread life-shortening genetic diseases. CF is often diagnosed at birth; there is no cure, and many CF patients die from chronic lung disease at a young age. Patients with CF experience declining pulmonary function related to chronic airway infection, inflammation and …
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Defining a Neuroprotective Pathway for the Treatment of Ataxias
Spinocerebellar Ataxias (SCAs) are a group of genetic diseases characterized by progressive ataxia caused by neurodegeneration of specific cell types, namely Purkinje Cells (PCs) of the cerebellum. Mouse models of SCA Type 1 (SCA1) can be used to study the molecular mechanisms underlying PC …
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New gating states of Cystic Fibrosis transmembrane conductance regulator discovered via studying pathogenic mutations, pharmacological reagents and ATP analogs.
… (CFTR), is one of the most common lethal genetic diseases in the United States. By studying the structural/functional properties of CFTR, we are able to understand the molecular nature of this protein as well as to provide the potential target for drug designs. In my PhD study, I applied …
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IDENTIFICATION OF SPLICING PATHWAY MUTATIONS VIA TARGETED SEQUENCING
… While ever-increasing numbers of human genetic diseases can be linked to defects in the splicing pathway, our molecular understanding of how these mutations disrupt this complex process remains incomplete. To identify mutations which impact the splicing pathway I have developed a series …
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Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.
… clinical severity of these life-threatening genetic diseases, which result in high morbidity and mortality worldwide. We report on analysis of a unique b-thalassemia cohort from Sardinia who present with either 1) a mild, non-transfusion-dependent (NTD) form expressing high Hb F, or with 2) a …
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Development and Characterisation of Solid-State Ion-Selective Electrodes, and their Application to Sweat Analysis for Cystic Fibrosis Diagnosis
Cystic Fibrosis (CF) is one of the most common genetic diseases affecting Caucasians that leads to early deathi. It is Ireland’s most common life- threatening inherited disease. Early diagnosis facilitates early implementation of therapy, which can significantly improve the prognosis and life …
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ΗΘΙΚΗ ΚΑΙ ΚΟΙΝΩΝΙΚΗ ΠΟΛΙΤΙΚΗ ΥΓΕΙΑΣ. ΗΘΙΚΕΣ ΚΑΙ ΚΟΙΝΩΝΙΚΕΣ ΠΡΩΤΕΡΑΙΟΤΗΤΕΣ ΓΙΑ ΓΕΝΕΤΙΚΕΣ ΥΠΗΡΕΣΙΕΣ ΣΤΗΝ ΕΛΛΑΔΑ
… ARGUMENT IN THIS STUDY IS THAT THE PRIORITY OF GENETIC SERVICES MUST BE CONSIDERED WITHIN THE FRAMEWORK OF AN OVERRIDING IMPERATIVE FOR A GREEK SYSTEM OF HEALTH CARE, THAT PROVIDES FAIR ACCESS TO A DECENT MINIMUM OF MEDICALCARE. THE ETHICAL REASONS FOR THE ALLOCATION OF FUNDS FOR HEALTH CARE, …
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