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.
Evaluation Of The Efficacy Of The Australian Mammographic Screening Program
Funder
National Health and Medical Research Council
Funding Amount
$504,096.00
Summary
BreastScreen Australia uses interim measures such as participation, small cancer detection and interval cancer rates to monitor the impact of the program on mortality. Using BreastScreen Victoria as a case study, we will estimate the direct impact of the program on mortality for screened women, addressing Cancer Australia's priority of 'Improving screening program outcomes to ensure that patients can be identified and treated appropriately and ensuring that screening services are effective'.
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%.
Risks And Benefits Of Breast Cancer Screening: BreastScreen WA Cohort Study Of Overdiagnosis And Breast Cancer Mortality
Funder
National Health and Medical Research Council
Funding Amount
$201,524.00
Summary
Overdiagnosis is the major downside of screening for breast cancer. This occurs when screening detects cancers that would not have caused symptoms in the woman's lifetime. This study aims to quantify the amount of overdiagnosis that occurs in the Australian breast cancer screening program (BreastScreen)
About 14,000 cases of bowel cancer occur annually in Australia despite the availability of life-saving screening. Most people do not receive recommended screening colonoscopy. We will look at why people at high-risk avoid screening and why people at average risk seek unnecessary screening. We will analyse family history and contacts with the healthcare system that impact screening decisions. We will determine the impact of screening on reducing the number of new cases and deaths.
Point-of-care HPV-DNA Testing For Cervical Cancer Screening In High-burden, Low-resource Settings
Funder
National Health and Medical Research Council
Funding Amount
$891,184.00
Summary
We will undertake the first field evaluation of a novel, newly-available, easy to use, and highly accurate point-of-care (POC) test for high-risk human papillomavirus (hrHPV) infection that will allow trained health staff to identify women at increased risk of cervical cancer and to provide same-day cervical cryotherapy for pre-cancer lesions identified on clinical examination.
Evaluating Cancer Screening: Context, Evidence, Values And Ethics
Funder
National Health and Medical Research Council
Funding Amount
$572,460.00
Summary
The research and clinical communities are divided over whether certain forms of cancer screening do more harm than good. This project asks: What is the right thing to do about cancer screening now? Using robust qualitative methodologies, we will study real cases of cancer screening and analyse their ethical implications. Drawing on this data and analysis, we will produce tools to help policy-makers, consumers and professionals make good decisions about cancer screening in future.
Implementation Of A New, Inexpensive And High-throughput Matrix Assisted Laser Desorption / Ionization _ Time Of Flight Mass Spectrometry Test For Superior Detection Of Fragile X Syndrome In Targeted Diagnostics And Newborn Population Screening.
Funder
National Health and Medical Research Council
Funding Amount
$254,175.00
Summary
Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment int ....Background: The Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability. There are now a number of treatments for FXS. However, often this disorder is not clearly recognized. We have developed a novel FXS test that could resolve this issue. Our objective is to develop a commercial package that describes suitability of our test for diagnostic use. If successful this could potentially leading to improvement in the prognosis for FXS children through early treatment intervention.Read moreRead less
Characterization Of A Novel Epigenetic Boundary And Long Range Epigenetic Modifications Specific To FMR1 Expansion Carriers With Behavioural And Cognitive Disorders - Implications For Earlier Diagnosis And Treatment.
Funder
National Health and Medical Research Council
Funding Amount
$670,836.00
Summary
Fragile X Syndrome (FXS) is the most common form of inherited intellectual disability and autism and is caused by a faulty switch in the gene FMR1. We have discovered new DNA regions important in FXS. The project aims to explain how these new regions regulate the FMR1 gene. This is essential for the discovery and validation of new avenues for earlier diagnosis, treatments and therapies for children and adults with FMR1 disorders and also for informing reproductive decisions.