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
Novel Fragile X Syndrome Prevalence Estimates In 100,000 Australian Newborns, Prognostic And Health-economic Outcomes: A Retrospective Newborn Screening Study
Funder
National Health and Medical Research Council
Funding Amount
$769,866.00
Summary
Fragile X syndrome (FXS) is a common heritable cause of intellectual disability and co-morbid autism, caused by epigenetic silencing of the FMR1 gene. This will be the world’s largest FXS mutation prevalence study conducted in 100,000 newborns using a novel test targeting epigenetic changes, and will also explore the prognostic outcomes, costs and benefits associated with FXS newborn screening, providing conclusions regarding expanding the current newborn screening in Australia to include FXS.
Advanced Non-invasive Cardiovascular Risk Screening In The Community: Practical And Cost Effective?
Funder
National Health and Medical Research Council
Funding Amount
$287,321.00
Summary
This research focuses on the practicalities and cost of mobile, advanced, non-invasive cardiovascular assessments to determine the extent of CVD and clinical risk factors and its likely impact on patterns of treatment and care to “disadvantaged” individuals living in rural and remote regions and Indigenous Australians. The advantage of directly acquiring risk profile information has not been fully explored and its potential to address an “epidemic” of CVD world-wide cannot be overstated.
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 Solution Based Approach Developing Child Health Research With A Focus On Preventive Interventions For Common Childhood
Funder
National Health and Medical Research Council
Funding Amount
$2,599,538.00
Summary
There is an increasing recognition that research into child health should focus not only on disease but also on common childhood disorders such as obesity, depression and poor literacy. In addition, such research should include solution-based activity. That is, child health research should have an active program of testing new interventions to prevent the onset of disorders, or to allow optimal early management. The Murdoch Childrens Research Institute, the largest Australian child health resear ....There is an increasing recognition that research into child health should focus not only on disease but also on common childhood disorders such as obesity, depression and poor literacy. In addition, such research should include solution-based activity. That is, child health research should have an active program of testing new interventions to prevent the onset of disorders, or to allow optimal early management. The Murdoch Childrens Research Institute, the largest Australian child health research institute, is in a very good position to develop Australia's capacity further with regard to a coordinated research program into preventative interventions in child health. This is because of: - the Institute's location at the Royal Children's Hospital, Melbourne, the largest paediatric health service provider in Australia - the many individual relevant research projects that are already occurring in MCRI - the strong existing teams of researchers with skills in many different fields of child health such as psychology, speech pathology, clinical-medical care, epidemiology and biostatistics, and laboratory science including genetics. This capacity building program will coordinate population health work to develop the knowledge and skills of eight population health researchers. This development will occur within the context of an internationally competitive research program with structured continuing education and training to promote public health leadership. The capacity building program will develop skills not only in study design, conduct and analysis, but also in collaboration and the translation of research findings into better health services, government policy and parental knowledge to prevent problems and improve the health and well being of children and their families. To care for children in the best way, parents, families, schools, health care providers, and government need the best evidence base possible on the prevention of common child disorders.Read moreRead less
Population Outcomes And Cost-effectiveness Of Universal Newborn Hearing Vs Risk Factor Screening At Age 5 Years.
Funder
National Health and Medical Research Council
Funding Amount
$540,423.00
Summary
Universal newborn hearing screening (UNHS) is being widely implemented because it is thought to greatly improve outcomes for children with congenital deafness. However, it is also very costly. Between 2003-5, all New South Wales babies were offered UNHS, while Victorian babies were offered a risk-factor screening and referral program. This two-year 'natural experiment' paves the way for a unique population effectiveness and cost-effectiveness study of UNHS as the children reach 5 years of age.
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.
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.