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.
Cancer Genomics; Psychosocial, Behavioural And Ethical Issues And Outcomes, Two Inter-related Longitudinal Studies
Funder
National Health and Medical Research Council
Funding Amount
$506,654.00
Summary
Over 1/3 of patients with cancer will die of their disease. Genomics offers hope of more tailored risk management and treatment, but will only realize its promise if patients understand, cope with, inform relatives about, and make informed decisions based on, genomic results. This study will be the first internationally to explore the knowledge, attitudes, preferences, experiences and outcomes of cancer patients who undergo genomic testing and their relatives, over time.