A Cohorts-based Approach To Define Monogenic Causes Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$824,841.00
Summary
New genomic technologies are transitioning from research to being used for routine genetic diagnosis. Rare diseases have been proposed to be one of the key beneficiaries of this translation. Collectively, rare diseases affect 6-8% of the population or ~20,000 births each year in Australia, mostly with serious health implications. Our study addresses the technical, bioinformatic and corroborative challenges needed for accurate diagnosis of a large group of rare diseases.
Integration Of Genetic Testing For Risk Associated Genomic Variants And Rare Predisposition Genes Into The Management Of High Risk Hereditary Breast Cancer Families
Funder
National Health and Medical Research Council
Funding Amount
$645,457.00
Summary
Breast Cancer is a common disease with up to 20% of cases associated with a family history. This project aims to assess the contribution of recently identified risk associated genomic variants and rare predisposition genes to the heritability of familial breast cancer. The project will also assess the experience of clinicians and patients as we aim to use this information to help improve the process of risk assessment and genetic counselling in the specialist Familial Cancer Centres.