New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.
Clinical Genetic Phenotyping Of Autism Spectrum Disorders
Funder
National Health and Medical Research Council
Funding Amount
$582,114.00
Summary
Individuals with autism spectrum disorders (ASD) have difficulty with communication, social interaction and intellectual disability. The cause is generally not known although most cases have a genetic basis involving multiple genes and possibly environmental factors. We will study families of children with ASD and carefully characterize features related to ASD in family members. This will help us to understand how ASD is inherited and serve as the basis for the discovery of autism genes.
Novel Retinal Architectural Vascular Signs And Risk Of Cardiovascular Disease: The AusDiab Study
Funder
National Health and Medical Research Council
Funding Amount
$754,254.00
Summary
Cardiovascular disease (CVD) and diabetes are major health problems. Identifying 'people at risk' is critical to design preventative strategies. We have developed new computer software to measure detailed characteristics of retinal vessels. By appling this system to predict CVD or diabetes in the AusDiab Study we aim to find 'the best combination of risk factors' to predict CVD and diabetes. This will open up the possibility of new risk assessment using a simple 'eye scan.'