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
Implementing Guidelines To Routinely Prevent Chronic Disease In General Practice
Funder
National Health and Medical Research Council
Funding Amount
$764,446.00
Summary
High quality, evidence-based guidelines for preventive activities and for the implementation of prevention in general practice have been developed by the Royal Australian College of General Practitioners and other bodies, yet available information suggests that many patients miss out on evidence-based preventive care. This project aims to evaluate current practice and develop a model of practice aimed at improving the implementation of preventive guidelines in general practice.
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)
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.
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.
A Glint Or A Squint Should Make You Think! A Randomised, Controlled Study To Determine The Impact Of An Eye-health Awareness Program For New Parents
Funder
National Health and Medical Research Council
Funding Amount
$95,348.00
Summary
Retinoblastoma (RB) is a rare, blinding and sometimes fatal, childhood eye cancer. The earliest diagnosis affords the child the best prognosis for retaining their sight, eye or their life. This project will examine parents’ current understanding of the symptoms and signs for RB, identify barriers to early diagnosis of RB, and to develop, implement and evaluate a sustainable public health awareness program to potentially improve the timing of diagnosis and subsequent outcomes for this disease.
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.
The efficacy of a referral and physical activity program for survivors of prostate cancer. Although survival rates of prostate cancer are approximately 83 per cent with earlier detection and improved treatment modalities, prostate cancer survivors are at an increased risk of dying from co-morbidities, which may be prevented or ameliorated through participation in physical activity. This project aims to establish an effective and sustainable referral and physical activity program to improve the ....The efficacy of a referral and physical activity program for survivors of prostate cancer. Although survival rates of prostate cancer are approximately 83 per cent with earlier detection and improved treatment modalities, prostate cancer survivors are at an increased risk of dying from co-morbidities, which may be prevented or ameliorated through participation in physical activity. This project aims to establish an effective and sustainable referral and physical activity program to improve the health outcomes of prostate cancer survivors by utilising the influence of clinicians in their delivery of information to patients. This concept of a referral and physical activity program has the potential to translate across all cancer tumour streams to reduce the physiological and psychological burden associated with living with cancer.Read moreRead less
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.'
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.