Massively Parallel Sequencing And PCR Optimised For DNA-based Diagnostics And Discovery
Funder
National Health and Medical Research Council
Funding Amount
$201,664.00
Summary
The next generation of medical diagnostics and discovery in disease research will involve the marriage of PCR, a tool used to amplify large amounts of DNA from small starting quantities, and �next generation� sequencing, a way to sequence lots and lots of DNA on a single instrument run. This study aims to describe methods which allow scientists to screen hundreds of disease genes in hundreds of people simultaneously with high accuracy and high efficiency.
A Functional Assay To Classify Genetic Variants In Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$368,195.00
Summary
At least one person in every 1000 is affected by Lynch syndrome, in which faulty DNA repair machinery causes high rates of cancer. People with Lynch syndrome can have their risk of cancer cut substantially with regular screening. However, we often struggle to understand whether people with 'non-standard' DNA sequences in particular genes actually have Lynch syndrome. This project develops a simple test that will tell clinicians whether a given sequence change relates to Lynch syndrome or not.
Validation Of A Multiplexed Blood Based Screening Assay For The Diagnosis Of Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$556,712.00
Summary
Colorectal cancer (CRC) is the second most common cancer in Australia with poor patient outcome due to late detection of the disease. We have developed a simple blood based test that can diagnose individuals with CRC at an early stage when the chance of cure is greater than 80%.