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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
School of Biomedical Sciences
Research centre(s)
Centre for Genomics and Personalised Health

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