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
Using Mathematical Models To Assess The Impact Of Interventions To Reduce Sexually Transmitted Infections In Australia
Funder
National Health and Medical Research Council
Funding Amount
$562,276.00
Summary
Sexually transmitted infections (STIs) are an increasing public health problem in Australia. Australia's recent National Transmissible Infections Strategy identified chlamydia control, STI prevention in gay men and STIs in Aboriginal and Torres Strait Islander communities as priority areas. We propose to develop mathematical models of STI transmission and use these to help understand and identify the most cost-effective interventions to reduce the impact of STIs on Australian populations.
The Validation Of A Culturally-specific Measure To Identify Depression In Aboriginal And Torres Strait Islander People With Or Without Chronic Disease
Funder
National Health and Medical Research Council
Funding Amount
$658,971.00
Summary
The project aims to determine whether a short, free-to-use, questionnaire about depression that has been adapted for use with Aboriginal and Torres Strait Islander people, accurately identifies depression in this population. Specifically we aim to test whether this measure is suitable for use in primary care settings with Aboriginal and Torres Strait Islander people with or without chronic disease.
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.
Preventing Diabetes In Pregnancy From Progressing To Type 2 Diabetes: Macrolevel System Change In South Australia And Vic
Funder
National Health and Medical Research Council
Funding Amount
$1,338,281.00
Summary
The greatest predictor of the likelihood of developing diabetes is having diabetes during pregnancy. This project will invite women who have developed diabetes during pregnancy to be registered for recall every two years. They would go to their general practitioner to be tested for diabetes and to be advised on risk factors for diabetes. A lifestyle modification program will be developed for these women to reduce the risk of progressing to diabetes.
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)