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
New multi-scale seed dispersal models for improved regional weed management. This project will exploit recent advances in ecological and atmospheric modelling with the aim to build improved models of seed dispersal across landscapes to anticipate weed spread. Damaging invasive plants are rapidly transforming landscapes and altering ecosystem function worldwide. The speed and direction of weed spread determines the success or failure of costly containment and control actions, however we lack the ....New multi-scale seed dispersal models for improved regional weed management. This project will exploit recent advances in ecological and atmospheric modelling with the aim to build improved models of seed dispersal across landscapes to anticipate weed spread. Damaging invasive plants are rapidly transforming landscapes and altering ecosystem function worldwide. The speed and direction of weed spread determines the success or failure of costly containment and control actions, however we lack the ability to adequately predict spread. New models that combine micrometeorological measurements, within-canopy turbulence and topographic variation in wind flows will be designed to better predict where dispersal will occur. In this project, these improved predictions are planned to be combined with decision models to direct the management of invasive species across entire landscapes.Read moreRead less
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.
Understanding snow gum dieback for effective and integrated management. The project leverages recent research and infrastructure investments and our determined and collaborative team as it aims to: 1) assess the future geography of snow gum dieback in the high country and identify priority locations for pro-active management, 2) quantify the impact of snow gums on high country water and carbon budgets and thus the socio- economic and biodiversity values, and 3) determine options for mitigation. ....Understanding snow gum dieback for effective and integrated management. The project leverages recent research and infrastructure investments and our determined and collaborative team as it aims to: 1) assess the future geography of snow gum dieback in the high country and identify priority locations for pro-active management, 2) quantify the impact of snow gums on high country water and carbon budgets and thus the socio- economic and biodiversity values, and 3) determine options for mitigation. Dieback of our iconic snow gum forests is diminishing the ecological, hydrological and cultural values of the Australian Alps and will impact state and national water-supply and power-generation systems. Our research will inform Alps-wide management efforts designed for long-term success.Read moreRead less
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.