Doctoral Degrees (Molecular Biology and Human Genetics)
Recent Submissions
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Implementation of targeted resequencing strategies to identify pathogenic mutations in Nigerian and South African patients with Parkinson’s Disease
(Stellenbosch : Stellenbosch University, 2019-04)ENGLISH ABSTRACT: Parkinson's disease (PD) is a debilitating neurodegenerative movement disorder. It is characterized by the progressive loss of specific neurons in the brain, the dopaminergic neurons of the substantia ... -
Detection and Characterization of Mycobacterial Infections Occurring in Phacochoerus africanus (Gmelin, 1788) (Common Warthog)
(Stellenbosch : Stellenbosch University, 2018-12)ENGLISH ABSTRACT: Mycobacterium bovis, a member of the Mycobacterium tuberculosis complex and the cause of bovine tuberculosis (bTB), has an extensive host range that includes livestock and wildlife. While warthogs are ... -
Understanding decision-making regarding prenatal diagnostic testing for down syndrome and termination of pregnancy: an interpretive phenomenological study
(Stellenbosch : Stellenbosch University, 2018-03)ENGLISH ABSTRACT: Pregnant women or couples who screen high risk for a baby with Down syndrome (DS) are faced with having to make life changing decisions. Firstly, they need to decide whether they want prenatal diagnostic ... -
Clinically relevant mutations contributing to drug resistance in Mycobacterium tuberculosis
(Stellenbosch : Stellenbosch University, 2017-12)ENGLISH ABSTRACT: Single nucleotide variants are the underlying driver of drug resistance, strain fitness and adaptation in Mycobacterium tuberculosis and investigating the mechanistic and physiological aspects of these ... -
Investigating southern African genetic diversity and its role in TB susceptibility
(Stellenbosch : Stellenbosch University, 2017-12)ENGLISH ABSTRACT: Recent genetic studies have established that the KhoeSan populations of southern Africa are the earliest known indigenous inhabitants of the region and distinct from all other African populations. Owing ... -
Nucleoid gene regulation in mycobacteria
(Stellenbosch : Stellenbosch University, 2017-12)ENGLISH ABSTRACT: Mycobacterium tuberculosis, the causative agent of tuberculosis disease, remains one of the leading causes of death worldwide. The ongoing tuberculosis epidemic and poor treatment outcomes can be attributed ... -
Functional characterization of sequence variants in leucine-rich repeat kinase 2 (LRRK2) and its possible interaction with the translocase of outer mitochondrial membrane (TOM) protein complex
(Stellenbosch : Stellenbosch University, 2017-03)ENGLISH ABSTRACT: Parkinson’s disease (PD) is an incurable neurodegenerative disorder, characterized by the progressive loss of dopaminergic neurons in the midbrain of affected individuals. Both environmental and genetic ... -
Identification of novel candidate genes for susceptibility to tuberculosis by identifying disease-causing mutations in individuals with Primary Immunodeficiency disorders
(Stellenbosch : Stellenbosch University, 2017-03)ENGLISH ABSTRACT: Mendelian susceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency disorder believed to affect less than 1:1 000 000 individuals globally. It is characterized by increased ... -
Sputum derived biomarkers of anti-tuberculosis drug activity in early bactericidal activity (EBA) studies.
(Stellenbosch : Stellenbosch University, 2017-03)ENGLISH ABSTRACT: Sputum sample is a crucial material to diagnose tuberculosis (TB), the resistance to different drugs and the assessment of new drug effectiveness in clinical trials. The first step to evaluate the efficacy ... -
Immunological markers for active TB and early treatment response indicators
(Stellenbosch : Stellenbosch University, 2017-03)Background The difficulty in diagnosing tuberculosis (TB) and evaluating TB treatment response are two major problems that are hampering the defeat of this infectious disease. The current TB diagnostic tools have several ... -
The effects of a Mycobacterium bovis infection on the metabolic and reproductive systems of African lions (Panthera leo) in the Kruger National Park.
(Stellenbosch : Stellenbosch University, 2017-03)ENGLISH ABSTRACT: SCCHg en SCCmec elemente is, maar verdere filogenetiese ondersoeke moet uitgevoer word, om insig te gee oor die oorsprong en verspreiding van hierdie nuwe element. This thesis serves as an attempt to ... -
Evaluating TB treatment responses by [18F]FDG-PET/CT imaging
(Stellenbosch : Stellenbosch University, 2016-12)BACKGROUND Tuberculosis (TB) presents a massive health care problem around the world and the rate of unfavourable outcomes after TB treatment remains unacceptably high. The absence of a gold standard to determine when ... -
Seroprevalence and molecular epidemiology of Toxoplasma gondii in the Western Cape of South Africa
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: Toxoplasmosis is a disease caused by the obligate intracellular parasite Toxoplasma gondii and is one of the most widely occurring infections known to man, causing disease in almost all mammals and ... -
Pyrazinamide resistance in Mycobacterium tuberculosis
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: Pyrazinamide (PZA) is one of the drugs included in the standardized TB treatment regimen for both drug susceptible and resistant TB. PZA has a unique ability to target persister bacilli and since its ... -
Molecular characterization and drug susceptibility of isolates from MDR-TB patients in the Eastern Cape and North West provinces of South Africa
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: South Africa is among the countries facing rising numbers of Mycobacterium tuberculosis (Mtb) drug resistant strains. In 2000, DOTS-Plus strategy was introduced nationally to combat drug resistant tuberculosis ... -
Evolution of XDR-TB and the associated proteome
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: Tuberculosis (TB), caused by the bacterium Mycobacterium tuberculosis, carries a substantial health burden worldwide and in South Africa. Efforts towards prevention and effective treatment of this disease ... -
The evaluation of novel biomarkers and antigens for the diagnosis of Mycobacterium bovis infection in African buffaloes (Syncerus caffer).
(Stellenbosch : Stellenbosch University, 2016-12)ENGLISH SUMMARY: Mycobacterium bovis (M. bovis) forms part of the Mycobacterium tuberculosis complex (MTC), a group of genetically related bacteria that causes tuberculosis in humans and animals. African buffaloes (Syncerus ... -
Identification of novel Parkinson’s disease genes in the South African population using a whole exome sequencing approach
(Stellenbosch : Stellenbosch University, 2016-03)ENGLISH SUMMARY: Parkinson’s disease (PD) is a progressive and severely debilitating neurodegenerative disorder that is characterised by a range of motor symptoms and the selective loss of dopaminergic neurons in the ... -
Analysis of copy number variation and disease mechanisms underlying Parkinson’s disease
(Stellenbosch : Stellenbosch University, 2016-03)ENGLISH ABSTRACT : Parkinson’s disease (PD) is a neurodegenerative movement disorder characterized by the loss of dopaminergic neurons in the substantia nigra of the midbrain. Although the aetiology of PD is still not fully ... -
Mapping of the distribution of Mycobacterium bovis strains involved in bovine tuberculosis in Mozambique
(Stellenbosch : Stellenbosch University, 2015-12)ENGLISH ABSTRACT: Bovine tuberculosis (BTB), caused by bacteria of the Mycobacterium tuberculosis complex is reported to cause economic and public health negative impact in countries where it is prevalent. The control ...
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