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
How Does Fra-1 Regulate The Invasive Properties Of Tumour Cells?
Funder
National Health and Medical Research Council
Funding Amount
$468,119.00
Summary
Most cancer deaths occur when tumours spread and destroy vital body functions. The invasion of tumour cells into surrounding tissue is a critical step during the spread of cancer. This project aims to unravel the molecular mechanisms that control the ability of tumour cells to invade into surrounding tissue and subsequently spread to other sites in the body. We expect to identify potential targets to better diagnose and treat the spread of cancer.
Using ‘omic and digital technologies toward better fasciolosis control. In Australia, liver fluke disease caused by Fasciola hepatica causes major economic losses to livestock production. Triclabendazole is the most effective drug for parasite control, however, resistance to this drug has emerged and continues to spread in Australia. This project expects to create a novel resource to identify new drug targets, generate new knowledge about the genetic composition of F. hepatica populations and un ....Using ‘omic and digital technologies toward better fasciolosis control. In Australia, liver fluke disease caused by Fasciola hepatica causes major economic losses to livestock production. Triclabendazole is the most effective drug for parasite control, however, resistance to this drug has emerged and continues to spread in Australia. This project expects to create a novel resource to identify new drug targets, generate new knowledge about the genetic composition of F. hepatica populations and unravel the genetic determinants underlying triclabendazole resistance. The curation of functionally-annotated genetic data for F. hepatica populations will underpin the development of diagnostic tests, drugs and vaccines to deliver a new generation of intervention strategies to control liver fluke disease.Read moreRead less
Cracking the code of snails to elucidate parasite disease transmission. In Australia, a disease caused by liver flukes causes major economic losses to livestock production. The role of Australian pond snails as intermediate hosts for this parasite is poorly understood. This project aims to explore the phylogeography, biology and genomics of these snails. It expects to create novel molecular resources for important snail species and verify their roles as key vectors of flatworm parasites. The cur ....Cracking the code of snails to elucidate parasite disease transmission. In Australia, a disease caused by liver flukes causes major economic losses to livestock production. The role of Australian pond snails as intermediate hosts for this parasite is poorly understood. This project aims to explore the phylogeography, biology and genomics of these snails. It expects to create novel molecular resources for important snail species and verify their roles as key vectors of flatworm parasites. The curation of genomic and transcriptomic data sets, and elucidation of snail–parasite interactions will underpin the development of environmental diagnostic tests and deliver a new generation of intervention strategies to reduce the burden of liver fluke disease through the control of their snail intermediate hosts.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.
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.
Understanding uterine contractility for reducing newborn lamb mortality. The project aims to elucidate the mechanisms underlying normal and dysfunctional uterine contractions in labouring ewes. Significantly, ~20% of newborn lambs die within days of birth, costing the Australian sheep industry more than $780 million annually. Difficult lambing is the leading cause of lamb mortality and weak uterine contractions are the most important contributor to difficult labour (dystocia). Intended outcomes ....Understanding uterine contractility for reducing newborn lamb mortality. The project aims to elucidate the mechanisms underlying normal and dysfunctional uterine contractions in labouring ewes. Significantly, ~20% of newborn lambs die within days of birth, costing the Australian sheep industry more than $780 million annually. Difficult lambing is the leading cause of lamb mortality and weak uterine contractions are the most important contributor to difficult labour (dystocia). Intended outcomes include a better understanding of dysfunctional labour contractions in sheep, and this knowledge could then contribute to the identification of more specific targets for genetic testing for dystocia. The benefits should include more specific aids for selective breeding programs for improved productivity and profitability.Read moreRead less