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To Apply Evidence Based Practice To Optimise The Laboratory Diagnosis Of Muscular Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$82,642.00
Summary
Currently in Australia, muscular dystrophy diagnosis entails detailed biochemical analyses mainly performed within research laboratories. We will use evidence based practice to optimise the laboratory diagnosis of muscular dystrophies, and provide information for genetic and clinical counselling and prevention to improve the standard of service for those with the disease. Assessment of diagnostic efficacy and cost-efficiency will aid in evaluating diagnostic approaches for other rare disorders.
Genetic Variants, Phenotypic Spectrum And Breast Cancer Risk Associated With Germline Mutations In PALB2: Identifying Female PALB2 Mutation Carriers At The Time Of Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$45,093.00
Summary
Population studies of female breast cancer (BC) show only a small proportion of familial aspects of BC can be explained by current knowledge of its causes. Women carrying PALB2 mutations who also have a strong family history of BC are of increased risk of BC. Our work will further define the risks and devise criteria to identify women most likely to carry PALB2 mutations. This will help prioritize testing, classify PALB2 variants and provide appropriate clinical management to carriers.