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Found 2 matching student topics

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Investigating genetic variants involved in Wilson disease and copper metabolism using genome editing

Wilson disease (WD) is a genetic disorder of copper metabolism. It can present with hepatic and neurological symptoms, due to copper accumulation in the liver and brain (1). WD is caused by compound heterozygosity or homozygosity for mutations in the copper transporting P-type ATPase gene ATP7B. Over 700 ATP7B genetic variants have been associated with WD. Estimates for WD population prevalence vary with 1 in 30,000 generally quoted. Early diagnosis and treatment are important for successful management of the disease. …

Study level
Master of Philosophy, Honours
Faculty
Faculty of Health
School
School of Biomedical Sciences
Research centre(s)
Centre for Genomics and Personalised Health

Unravelling the function of PSA variants in prostate cancer

OverviewProstate cancer (PCa) is the second-most common cancer in men. Prostate-specific antigen (PSA) encoded by the KLK3 gene is the only FDA-approved PCa biomarker for PCa. As a serine protease, PSA can also regulate multiple functions involved in PCa progression and metastasis and is summarised in our recent publications. Immunotherapies, including PSA-targeting therapies, have shown modest improvement in survival, for only a subset of metastatic PCa patients. Not much is known on the immunoregulatory role of PSA or its variants, …

Study level
PhD, Master of Philosophy, Honours
Faculty
Faculty of Health
School
School of Biomedical Sciences
Research centre(s)
Centre for Genomics and Personalised Health

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