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
Significance Of Low-level Mosaicism To Intellectual Disability In Paediatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$483,402.00
Summary
My vision for the next 4 years is to improve outcomes for children and their families with inherited disorders associated with intellectual disability (ID) and autism through earlier diagnosis and intervention. This is of great importance with annual costs of ID close $14.72 billion to the Australian health system, and missed or delayed diagnoses being a significant problem, as ID is found in 1.7% of births, where a specific cause is currently identified in less than half.
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.
Perinatal Stress Leads To Neurosteroid Deficits And Adverse Behavioural Outcomes
Funder
National Health and Medical Research Council
Funding Amount
$1,198,042.00
Summary
This grant will examine the effect of psychosocial stress experienced after birth on the production and regulation of steroid hormones in the brain of newborn animals. The work will investigate how stress changes the levels these brain steroids and sensitivity to them and if these effects are remain into adulthood. The studies will then determine if these changes lead to adolescent behaviour disorders. The effectiveness of steroid therapies in treating these disorders will also be determined.
Centre Of Research Excellence (CRE) In Newborn Medicine
Funder
National Health and Medical Research Council
Funding Amount
$2,622,320.00
Summary
Problems around birth are common and can have long-term implications, including into adulthood. Our goal is to improve health outcomes for all newborn babies and their families by determining factors that enhance outcome and assessing the benefits and consequences of new treatments for mothers and babies. We are world leaders in this field and are dedicated to training the next generation of health professionals in the care of newborn babies, in Australia and the rest of the world.
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.
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)
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.