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.
Targeting At Risk Relatives Of Glaucoma Patients For Early Diagnosis And Treatment (TARRGET)
Funder
National Health and Medical Research Council
Funding Amount
$595,375.00
Summary
Glaucoma is the second leading cause of blindness in Australia but early detection and treatment can prevent blindness. We will recruit patients with advanced glaucoma from an Australia wide registry and refer their close relatives to have an eye exam and genetic testing to see if they are at risk of glaucoma. We will evaluate how a coordinator can improve the uptake of this screening program referring people to local eye care providers and in rural WA providing screening in 16 remote locations.
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
Gestational diabetes is an important medical condition. We plan to investigate two subgroups of women with gestational diabetes. Firstly, women who have diabetes antibodies in pregnancy. Secondly, women who have a mild form of diabetes caused by a single gene mutation, who may be first identified during pregnancy. Correct identification of these subgroups of women is important for immediate and long-term management of both the mother and her fetus.
Preconception Carrier Screening: Providing Genetically At Risk Families With A Chance To Have Healthy Children
Funder
National Health and Medical Research Council
Funding Amount
$857,443.00
Summary
Current preconception carrier screening is not widely accessible and has no public funding. We will develop a model of the social and economic impacts of genetic disorders on families and government and the cost of a range of genomic technologies to determine the social and economic benefits that could be realised by the introduction of accessible and affordable preconception carrier screening using existing technologies: gene panels and advances in whole genome sequencing (WGS).
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.
Better Methods For Individual Risk Prediction Of Complex Traits In Human Populations
Funder
National Health and Medical Research Council
Funding Amount
$748,609.00
Summary
A genetic contribution to many common diseases is shown by an increased risk of disease in family members of diseased individuals. However, for each disease there are likely to be many hundreds of DNA variants each conferring a small increase in risk. This proposal is about the development of better statistical methods to predict disease from genome-wide genetic marker data. Individual risk prediction for disease is likely to become an integral part of Genomic Medicine in Australia.
New Therapeutic Approaches For Genetic Skeletal Disorders
Funder
National Health and Medical Research Council
Funding Amount
$961,150.00
Summary
Genetic skeletal disorders are a significant disease burden with limited therapeutic options. We will use mouse models of cartilage and bone disorders and human induced pluripotent stem cell derived bone and cartilage 'disease in a dish' models to test repurposed FDA-approved drugs and new drug candidates as novel therapeutic strategies.
I am a molecular geneticist with a main research focus in the identification and characterisation of genes and molecular pathways involved in intellectual disability and epilepsy.