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 81 for “"Genetic disorders"”.
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Skin barrier dysfunction in common genetic disorders
… of the filaggrin protein; this is the underlying genetic cause of ichthyosis vulgaris (IV) and is a significant predisposing factor for atopic dermatitis (AD) and other atopic conditions such as asthma, allergic rhinitis and food allergy. In this thesis, the critical role of FLG-null mutations was …
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Genetic disorders on the island of Mauritius
Inherited disorders are an important cause of physical handicap, deafness, mental retardation and blindness. There is considerable variation in the geographic and ethnic distribution of genetic disease due to biological pressures and historical accidents. In this context the relative prevalence of …
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Quantitative proteomics analysis in cultured skin fibroblasts from patients with rare genetic disorders
… the underlying gene defect has helped enormously genetic counselling in affected families resulting in better prevention of these disorders. Initially, it was thought that it would also lead to the development of effective new treatments. Gene therapy consisting of introducing a full-length gene …
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Leveraging gene/subnetwork meta-analysis to recover signal and deconvolute the interactions between genes in the risk of genetic disorders
… isolation, may not fully capture the intricate genetic architecture of complex diseases. This can be due to genetic heterogeneity or limitations associated with gene-based analysis, where power is lost due to non-effect variants within a gene or low-frequency causal variants. Consequently, …
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Knowledge, attitudes and practises toward premarital genetic testing for rare genetic disorders among Omani families at Sultan Qaboos University Hospital
… elevated occurrence of rare autosomal recessive disorders. Presently, at the national level, the existing premarital screening (PMS) initiative primarily targets hemoglobinopathies, which are particularly prevalent within the country and not necessarily associated with consanguineous marriages. …
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A study of community genetics at Umlazi Township of KwaZulu-Natal
… of the study was to investigate the incidence of genetic disorder at Umlazi Township, and the ability of the present structure of health care services to provide necessary genetic service to this community. The study revealed that the health care practitioners who come in contact with clients or …
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Attitudes toward prenatal diagnosis and termination of pregnancy in Saudi Arabia
… prenatal testing for a large number of different genetic disorders. The tests that have been offered to date are available because of technology, not because of the burden or prevalence of the condition. Parents' attitudes to different genetic disorders need to be evaluated, because little is …
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A comparative analysis of machine learning algorithms for genome wide association studies
… genome play a vital role in the emergence of genetic disorders and abnormal traits. Single Nucleotide Polymorphism (SNP) is considered as the most common source of genetic variations. Genome Wide Association Studies (GWAS) probe these variations present in human population and find their …
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Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease
… kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected worldwide (Grantham, 1997). …
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Metabolic Reprogramming in Response to Mitochondrial Electron Transport Chain Dysfunction
… electron transport chain (ETC) diseases are genetic disorders of energy production with an occurrence rate of approximately 1:4300 and no effective treatment options. Here we show in vitro models of mitochondrial ETC dysfunction display shunting of major carbon sources (glucose and glutamine) …
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Robust and Equitable Public Health Screening Strategies, with Application to Genetic and Infectious Diseases
… that screens newborns for life-threatening genetic disorders for which early treatment can substantially improve health outcomes. Another topical example is in the realm of infectious disease screening, e.g., screening for COVID-19. The common features of both public health screening …
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Use of luminescence energy transfer probes to detect genetic variants.
… an important tool in research and diagnosis of genetic disorders.
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New insights in the molecular pathogenesis of neurofibromatosis type 1
… is one of the most common autosomal dominant genetic disorders, affecting approximately 1 in 3500 individuals worldwide. The most common clinical manifestations are pigmentary abnormalities together with the development of benign peripheral nerve sheath tumors or neurofibromas. In addition, …
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Barren promise : the hope and heartache in treating infertility
Preimplantation Genetic Diagnosis (PGD) is a reproductive medicine technology that allows the genetic characteristics of embryos to be examined. Created through in vitro fertilization, embryos are grown in a Petri dish for three days, at which point they have eight cells. One cell is then removed …
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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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Beliefs on Heredity in Welkom, Free State
… of the concept of heredity. Congenital disorders, many of which are genetic in origin, are one of the major contributors to neonatal deaths in South Africa. Which is one of the reasons why it is important to document what the beliefs of heredity are in different environments. Being …
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Bisphosphonate-related osteonecrosis of the jaw
… to have a role in dermatological diseases, genetic disorders, immunological diseases, and inflammatory responses. Finally, analysis of serum samples revealed that VEGF levels are significantly suppressed in patients undergoing BP therapy. In summary, results from this dissertation provide …
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Characterisation of Truncated Mutant Rhodopsin and its Involvement in the Pathogenesis of Retinitis Pigmentosa
… retinitis pigmentosa (ADRP) is the most common genetic disorders which cause visual degradation, and blindness. 20-25% of cases are caused by mutations in the rhodopsin gene. The mutations located in the N-terminus of rhodopsin produce severely misfolded protein, which has been shown to cleave …
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Thermodynamics and kinetics of antisense oligonucleotide hybridization to a structured mRNA target
… of infectious diseases as well as complex genetic disorders. Although there have been some remarkable successes, realizing this potential is proving difficult because of problems with oligonucleotide stability, specificity, affinity, and delivery. Each of these limitations has been …
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PIECING TOGETHER THE PUZZLE OF TREATING HEMOPHILIA A UTILIZING AAV BASED GENE THERAPY
Genetic disorders are a major health issue. They include any disease caused by a genetic mutation or deletion. Disorders range from Hemophilia, Cystic fibrosis, and Duchenne muscular dystrophy to diseases like Cancer and Huntington’s Disease. While these diseases may seem vastly different, they all …
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