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 78 for “"genetic disease"”.
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Network based analysis of genetic disease associations
… have explained only a small fraction of the genetic factors contributing to common human diseases. There are many theories about where this "missing heritability" might lie, but increasingly the prevailing view is that common variants, the target of GWAS, are not solely responsible for …
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Harnessing New Genomics Technologies to Assess Environmental Risk Factors That May Cause Heritable Genetic Disease
… of BaP exposure, the global impact of smoking on genetic disease burden (1.4 million aneuploidies, 2-8 million mutations) was estimated conservatively at 86 billion dollars per generation for intellectual disease alone. Overall, this work furthers our understanding of heritable mutagenesis and …
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Knowledge Translation in the Era of Precision Diagnostics: Examining the Use of Clinical Exome and Genome Sequencing for Rare Genetic Disease Diagnosis
… test for patients with suspected rare genetic diseases (RGDs) worldwide, and healthcare systems are challenged to optimize its use within their jurisdictions. This thesis aimed to examine the rapidly evolving scientific evidence base related to ES/GS and how it has been translated into …
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The Impact of Genetic Disease on the Family: Examining the Relationship Between Psychological Well-Being, Social Support, and Spirituality in Unaffected Carriers of Leber’s Hereditary Optic Neuropathy
<p>The current research was undertaken to explore the psychological well-being of mothers and siblings of an individual with vision loss symptoms due to Leber’s Hereditary Optic Neuropathy and whether perceived social support and spiritual involvement and beliefs served as protective factors as …
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Bioinformatics e Biostatistics applied to research in pediatric genetic disease. Clinical evidence in IFNλ4 polymorphisms associated with HCV infection in patients with beta thalassemia and WGCNA analysis weighted for IFNλ4 genotype rs12979860 to detect RPL9P18 as hub in HCV infected cell.
… association studies have identified host genetic variation to be critical for spontaneous clearance and treatment response in patients infected with hepatitis C virus (HCV). We demonstrated the same in patients with thalassemia major infected by genotype 1b of HCV. In the present first …
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An immunohistochemical assessment of endomyocardial biopsy specimens from the South African arrhythmogenic right ventricular cardiomyopathy registry
… cardiomyopathy / dysplasia (ARVC/D) is a genetic disease causing fibro-fatty replacement of the right ventricular myocardium, resulting in cardiac arrhythmias and sudden death. Part of the diagnostic work up for these patients includes a biopsy of the endocardium which has historically …
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Identification of altered Ras signaling and intermediate filament hyperphosphorylation in giant axonal neuropathy
Giant axonal neuropathy (GAN) is a rare genetic disease that causes progressive damage to the nervous system. Neurons in GAN patients develop an abnormal organization of cytoskeletal proteins called intermediate filaments (IFs), which normally provide strength and support for the overall cell …
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Genetic disorders on the island of Mauritius
… in the geographic and ethnic distribution of genetic disease due to biological pressures and historical accidents. In this context the relative prevalence of common inherited disorders and the recognition of rare conditions in isolated communities is of great academic importance. Oceanic …
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High resolution optical DNA mapping
Many types of diseases including cancer and autism are associated with copy-number variations in the genome. Most of these variations could not be identified with existing sequencing and optical DNA mapping methods. We have developed Multi-color Super-resolution technique, with potential for high …
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Sickle cell disease
Sickle cell disease is a group of disorders that affects hemoglobin, and causes distorted sickle- or crescent- shaped red blood cells. It is a genetic disease acquired by the inheritance of two abnormal hemoglobin S genes (HbS), one from each parent. SCD is most common among people from Africa, the …
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Development of polymer - lipid nanoparticles for potent mRNA delivery to the lung
… promise to specifically and completely treat genetic disease. mRNA has been used as a vaccine, as a protein replacement therapy, and even as a means of inducing permanent genomic editing via CRISPR. However, unlike traditional small molecule drugs, naked mRNA cannot readily enter the cellular …
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Machine learning based CRISPR gRNA design for therapeutic exon skipping
… exon has been shown to be effective for treating genetic disorders. However, many of the clinically successful therapies for exon skipping are transient oligonucleotide-based treatments that require frequent dosing. CRISPR-Cas9 based genome editing that causes exon skipping is a promising …
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Design and evaluation of drug loaded microbubbles for ultrasound guided cancer therapy
Cancer is a genetic disease, caused by mutations in the genome of normal cells. Chemical and physical damage to the cellular genome can induce these mutations resulting in the transformation of a healthy cell into a tumor cell. Over the past years, researchers have acquired a basic understanding of …
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Diterpenos com atividade antitumoral frente células leucêmicas: uma revisão.
… medicinal purposes to treat, cure and prevent disease, is one of the olde st medicinal practices of mankind. P lants represent the largest sources of active substances that can be used in therapy due to the high structural diversity of metabolites produced and , because of this, they are the …
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Novel DNA probes for sensitive DNA detection
… further understanding and<br/>diagnosis of genetic disease. The ability to perform such analysis of genetic material<br/>requires highly selective and reliable technologies. Furthermore techniques which can use<br/>simple and cheap equipment allow the use of such technologies for point of …
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Biochemical and Functional Characterization of Novel RNA-binding Proteins Interacting with SMN in Motor Neuron-derived Cells
Spinal muscular atrophy is an autosomal recessive genetic disease that results from the loss and/or degeneration of alpha motor neurons in the lower part of the spinal cord. With ~ 1 in 6000 live births per year being affected, this disease is the second leading cause of infant death and is caused …
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Intestinal cancer : linking infection, inflammation and neoplasia
… model of cancer proposes that cancer is a genetic disease in which mutations are required in carcinogenesis. When this theory was championed, research focused on somatic mutations. The focus has broadened to include epigenetic mechanisms in changing gene expression. The association between …
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MODULATING TFEB ACTIVITY IN THE BIRT-HOGG-DUBE' SYNDROME BY TARGETING THE VACUOLAR ATPASE
… mTORC1. In the Birt-Hogg-Dubé (BHD) syndrome, a genetic disease caused by germline mutations in FLCN gene, TFEB was found to be constitutively active and to promote the development of kidney cysts and cancer. Therefore, inhibition of TFEB activity represents a challenging opportunity for the …
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RNA interference targeting Glucose-Regulated-Protein 78 induces HepG2 cell Apoptosis
<p>Cancer is a complex genetic disease that is driven by genetic mutations resulting in chronic, inappropriate cell proliferation. Many current cancer therapies lack specificity towards tumor tissues, ultimately leading to adverse side effects and limited clinical efficacy. Recently, selective …
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