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Biography |
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I am currently enrolled in a Master’s course in Genetic Counselling at the University of Cape Town. I have completed a PhD degree at the Medical and Health Science faculty of Stellenbosch University, with a project entitled, “Development and Application of A Pathology Supported Pharmacogenetic Test for Improved Clinical Management of South African Patients with Breast Cancer and Associated Co-morbidities”. In addition, I have completed a 2-year internship with the Technology Innovation Agency (who supports the development and commercialization of science and technology initiatives) for facilitation of genetic test development and training in innovation and technology transfer. In 2012 I was employed by the South African Medical Research Council (Indigenous Knowledge Systems Unit) and studied the cytotoxic effect of plant-based compounds on various malaria-infected cancer cell lines. Furthermore, I have obtained a BSc degree in Human Life Sciences, majoring in Physiology, Biochemistry, Microbiology and Genetics. In 2009 I enrolled into the Honours program in the division of Anatomical Pathology, department of Pathology. My Honours project entitled, “Enhancing the value of post-mortem cytology at Tygerberg Hospital”, aimed to determine the extent of degeneration of tissues/cells in routine autopsy specimens in relation to various parameters. I subsequently developed an interest in the etiology of disease, which prompted me to explore pathologic processes at the molecular level. In my quest to be immersed in a field which is at the forefront of personalised medicine, I decided to go into human molecular genetics. Thereafter I registered for a Master’s degree in Medical Science with a special focus on breast cancer genetics. Significant and clinically useful results obtained during my MSc study led to the conversion of my MSc project to a PhD study. My research to date has addressed the need to focus not only the treatment of disease but also improvement of the clinical management and quality of life of patients, as well as disease recurrence and co-morbidity risk reduction. The most relevant/useful research I believe is that which gets translated directly into clinical practice. I have presented my research at several national and international conferences and have produced 5 publications to date. In 2011, I won the 1st place prize for best presentation at the Biological Psychiatry Congress. More recently, my presentation won the 1st place prize for best divisional and overall presentation at our departmental Academic Year Day. Furthermore, I have taught English to various age groups in Thailand. I’ve also been involved as a leader in a community-based project which involves teaching and equipping scholars during school holidays as a means of keeping them off the streets. My life-long goal is to contribute and truly make a difference in the lives of people, especially those in the local population through my research and daily dealings with people.
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Abstract |
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Application of a pathology-supported pharmacogenetic test in selecting breast cancer patients for whole exome sequencing |
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Identification of a high-penetrance BRCA1 or BRCA2 mutation in female patients with breast cancer indicates a significantly increased risk for bilateral breast cancer and ovarian cancer. A positive test provides a mutation-specific assay for screening of close relatives to exclude or confirm the familial risk prior to implementation of preventive steps in affected individuals. Documentation of the age at diagnosis of breast cancer and evaluation of the family history are well-established indications of referral for BRCA mutation testing. A need, however; exists to develop a screening tool for selection of genetically uncharacterized breast cancer patients most likely to benefit from whole exome sequencing (WES). The knowledge that breast cancer in women with germline BRCA1 mutations are mostly estrogen receptor (ER)-negative and typically lack expression of the progesterone receptor (PR) and overexpression of human epidermal growth factor receptor-2 (HER2) in their tumours, prompted the development of a pathology-supported pharmacogenetic test ideally suited to bridge the gap between single-gene and multi-gene testing using WES. This test performed as part of a novel pre-screen algorithm (EPA) has the potential to reduce recurrence risk caused by inappropriate/ineffective treatment due to variation in drug metabolising genes and to prevent co-comorbidities frequently associated with polymorphic variation in the methylation pathway. WES enables identification of genetic risk factors of relevance to both cancer development and tailored therapeutic intervention in a single genetic test. |
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