Identification And Molecular Characterisation Of High-risk Premalignant Breast Lesions
Funder
National Health and Medical Research Council
Funding Amount
$560,382.00
Summary
Understanding the full repertoire of genetic events that underlie the development of breast cancer may allow development of prevention strategies. This study will analyse genetic data of benign breast lesions that may be non-obligate precursors of breast cancer. Importantly, clinical management of these lesions is difficult. A reliable method of predicting the risk of progression to cancer would be a significant advance, with benefits to individual patients and also the health system.
Cardiomyopathies (heart muscle problems) are the most common inherited heart conditions and represent an important clinical problem. The clinical and psychosocial impact on both the children and their families is significant. The proposed research will improve our understanding of the clinical and genetic basis of childhood cardiomyopathies, and how genetic factors may influence the development, progression, and clinical outcome, including heart failure, transplantation, and sudden death.
Integration Of Genetic Testing For Risk Associated Genomic Variants And Rare Predisposition Genes Into The Management Of High Risk Hereditary Breast Cancer Families
Funder
National Health and Medical Research Council
Funding Amount
$645,457.00
Summary
Breast Cancer is a common disease with up to 20% of cases associated with a family history. This project aims to assess the contribution of recently identified risk associated genomic variants and rare predisposition genes to the heritability of familial breast cancer. The project will also assess the experience of clinicians and patients as we aim to use this information to help improve the process of risk assessment and genetic counselling in the specialist Familial Cancer Centres.
Prediction, Verification, And Clinical Significance Of Splicing Aberrations Associated With BRCA1 And BRCA2 Variants
Funder
National Health and Medical Research Council
Funding Amount
$572,995.00
Summary
There are many families with sequence changes in the breast cancer genes BRCA1 and BRCA2 for which the consequences cannot be easily predicted. It is not possible to offer informative genetic counselling to these women or their at-risk family members. This study aims to refine computer prediction models that are used to predict if sequence changes disrupt the way the gene product is collated in the cell, and what amount of disruption will lead to cancer. This will improve patient management.
Transforming The Diagnosis Of Mitochondrial Disorders Using High-throughput Sequencing, Functional Prediction And Experimental Validation
Funder
National Health and Medical Research Council
Funding Amount
$670,794.00
Summary
The human genome project sparked enormous improvements in our ability to sequence DNA. “Next Generation” DNA sequencing can potentially sequence an individual’s entire genome in a week and has the ability to transform the diagnosis of inherited diseases but is as yet unproven in a medical genetics context. We will develop and validate the use of Next Generation sequencing to enable the rapid sequencing of over 1000 genes in which mutations cause inherited metabolic diseases.
A Cohorts-based Approach To Define Monogenic Causes Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$824,841.00
Summary
New genomic technologies are transitioning from research to being used for routine genetic diagnosis. Rare diseases have been proposed to be one of the key beneficiaries of this translation. Collectively, rare diseases affect 6-8% of the population or ~20,000 births each year in Australia, mostly with serious health implications. Our study addresses the technical, bioinformatic and corroborative challenges needed for accurate diagnosis of a large group of rare diseases.
Clinical, Genetic And Psychosocial Aspects Of Sudden Cardiac Death
Funder
National Health and Medical Research Council
Funding Amount
$433,423.00
Summary
Sudden cardiac death (SCD) in the young is a tragic complication of a number of genetic heart diseases. Families must deal with profound grief and act on the genetic risk to themselves and other relatives. Clinical management can include the implantable cardioverter defibrillator (ICD) and is the only therapy proven to prevent SCD. This proposal seeks to investigate the clinical, genetic and psychosocial aspects of managing families who present following a SCD, including psychological outcomes o ....Sudden cardiac death (SCD) in the young is a tragic complication of a number of genetic heart diseases. Families must deal with profound grief and act on the genetic risk to themselves and other relatives. Clinical management can include the implantable cardioverter defibrillator (ICD) and is the only therapy proven to prevent SCD. This proposal seeks to investigate the clinical, genetic and psychosocial aspects of managing families who present following a SCD, including psychological outcomes of life-saving ICD therapy.Read moreRead less
Personalising Care In Operable Pancreas Cancer. GAP-T: A Study Of Imaging And Molecular Biomarkers To Guide Treatment Of Patients Receiving Preoperative Chemotherapy Followed By Surgery.
Funder
National Health and Medical Research Council
Funding Amount
$405,345.00
Summary
We are studying ways to improve how we treat patients with pancreatic cancer. We will use a novel imaging tool, the PET scanner, to show where active cancer is and how quickly and how well a new drug combination (gemcitabine and nab-paclitaxel) is affecting the cancer. We will also study if measuring the expression of specific proteins (SPARC and hENT1) in the cancer affects the outcome and will allow us to determine ahead of time which patients will benefit most from the drugs.
Forecasting The Impact Of Climate Change On Dengue Transmission
Funder
National Health and Medical Research Council
Funding Amount
$506,432.00
Summary
Dengue fever (DF) is the most important mosquito-transmitted viral disease in the world. The large-scale re-emergence of DF in the Asia-Pacific region during the past few decades has renewed its status as a serious international public health problem. Global climate change is anticipated to impact upon the biology and ecology of vectors and consequently the risk of DF transmission. The principal research aim of this study is to project the impact of future climate change on DF.
Understanding Sensitivity And Resistance To Trastuzumab And Lapatinib In HER2 Overexpressing Breast Cancer
Funder
National Health and Medical Research Council
Funding Amount
$414,056.00
Summary
Previously, women diagnosed with a breast cancer that overexpressed the HER2 protein had a very high risk of dying. Trastuzumab, a treatment targeted at this protein, has been an extremely effective treatment. Currently there are new anti-HER2 drugs available, which will likely to be used in combination with trastuzumab. We will be investigating biological markers of resistance and sensitivity to these drugs and combinations in order to try and understand who needs which drug and/ or combination ....Previously, women diagnosed with a breast cancer that overexpressed the HER2 protein had a very high risk of dying. Trastuzumab, a treatment targeted at this protein, has been an extremely effective treatment. Currently there are new anti-HER2 drugs available, which will likely to be used in combination with trastuzumab. We will be investigating biological markers of resistance and sensitivity to these drugs and combinations in order to try and understand who needs which drug and/ or combinations.Read moreRead less