SEMINAR: "Functional significance of Sequestosome 1 (SQSTM1/p62) mutations in Paget�s disease of bone�

Sarah completed a Bachelor of Science, majoring in Biomedical Science and Molecular Biology with Honours (1A) at Murdoch University in 2004. Sarah began her PhD at The University of Western Australia in 2005, researching the possible mechanisms of disease associated with mutations of the Sequestosome 1/p62 gene commonly identified in patients with Paget’s disease of bone. With support from WAIMR, Dept. Endocrinology and Diabetes and UWA Sarah was able to present her research at Oxford (UK), Sydney (Australia) and at various conferences in Perth including ASMR and the Australian New Zealand Bone and Mineral Society scientific symposiums. Paget’s disease of bone is common among elderly patients with an approximate prevalence of 4% in Western Australia. The disease can lead to increased fracture risk and bone deformities. The most frequently cited complications that patients suffer are debilitating pain and deafness, a rare complication is osteosarcoma within pagetic lesions. Approximately 30% of familial and ~5% of non-familial Paget’s patients have a mutation within the SQSTM1 gene.