Population Based Genetic Testing For High-risk Breast And Ovarian Cancer Predisposition Genes
Funder
National Health and Medical Research Council
Funding Amount
$1,112,985.00
Summary
Inherited mutations in BRCA1 and BRCA2 confer a very high risk of breast and ovarian cancer. Importantly, once carriers are identified, effective strategies are available that can dramatically reduce the risk of cancer. We will perform genetic testing of a healthy western population to identify breast/ovarian cancer genes before the women develop cancer. Population-based screening could significantly reduce the incidence of these diseases.
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.
Optimising Men’s Uptake Of FIT Screening For Bowel Cancer: A Population Based Randomised Controlled Trial
Funder
National Health and Medical Research Council
Funding Amount
$552,522.00
Summary
Men are more likely to die from bowel cancer but are not participating in the National Bowel Cancer Screening program to the same extent as women. The research group has devised simple messages that their previous research shows encourages men to use the screening kit. The team will compare the use of kits among men who get the Government’s usual invitations, with a group who receive invitations with the messages for men.
Towards Adequate National Provision Of Genomic Testing In Pregnancy
Funder
National Health and Medical Research Council
Funding Amount
$515,493.00
Summary
Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential ....Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential legal and policy changes in Australia.Read moreRead less
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 Novel Multi-gene Marker Blood Test To Increase Community Participation In Colorectal Cancer Screening.
Funder
National Health and Medical Research Council
Funding Amount
$581,116.00
Summary
Bowel cancer screening programs are vital for early detection and prevention, but participation with the traditional faecal testing mode is less than 35%. Reasons include dislike or unsuitability for faecal testing. These barriers could be overcome and participation could increase using a different sampling mode for the screening test. We have developed a blood test for bowel cancer and will investigate if people who will not screen with the stool test will screen with the blood test instead.
Identification And Characterisation Of Novel FLT3-ITD Co-operating Mutations
Funder
National Health and Medical Research Council
Funding Amount
$659,245.00
Summary
Acute myeloid leukaemia is a cancer of the blood and bone marrow. We have identified new genes that act with the known oncogene FLT3-ITD in myeloid disease. We will examine in detail how these new genes contribute to the development of AML. This will aid in the development of new therapies for groups of AML patients with these mutations.
AusGo-SHEMO….Let’s Go! Australian Gold Standard Health Economics Model Of Osteoporosis
Funder
National Health and Medical Research Council
Funding Amount
$378,959.00
Summary
We will develop an unbiased, gold standard, validated, transparent health economics model of osteoporosis to identify cost-effective screening and treatment strategies, and that will be made widely available to all stakeholders. Without this model, scarce health care resources may be squandered on osteoporosis screening strategies and osteoporosis-related fracture prevention medications that are not cost-effective. Worse, patient access to cost-effective medications may be delayed.
Circulating Tumour DNA (ctDNA) As A Diagnostic Tool In Colorectal Cancer: Role In Screening And Early Detection Of Metastatic Or Recurrent Disease
Funder
National Health and Medical Research Council
Funding Amount
$500,478.00
Summary
These studies will be exploring the value of using a blood test to detect cancer DNA as a screening test for colorectal cancer. This test promises to be superior to faecal blood testing, which is currently performed as part of the National Bowel Cancer Screening Program. It may also have advantages over colonoscopy as a screening tool. Given the likely acceptability of having a blood based screening test, it is expected that participation rates in bowel cancer screening, which has been shown to ....These studies will be exploring the value of using a blood test to detect cancer DNA as a screening test for colorectal cancer. This test promises to be superior to faecal blood testing, which is currently performed as part of the National Bowel Cancer Screening Program. It may also have advantages over colonoscopy as a screening tool. Given the likely acceptability of having a blood based screening test, it is expected that participation rates in bowel cancer screening, which has been shown to save lives, will be greatly increased.Read moreRead less