Translation Of Glaucoma Blindness Genes To Improve Clinical Practice
Funder
National Health and Medical Research Council
Funding Amount
$856,795.00
Summary
Glaucoma is a common cause of irreversible blindness. It is currently difficult to predict which patients with the earliest signs of glaucoma will develop blinding stages of the disease. This study will investigate how genes and eye measurements can be used to predict the risk of developing severe glaucoma in people with early signs of disease. This will ensure that high risk individuals can access treatment early, while those at low risk can be spared unnecessary treatment and seen less often.
Identification And Function Of Genes That Increase Risk For Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$1,180,912.00
Summary
Endometriosis is a common disease that affects 7% of reproductive age women in Australia, resulting in pelvic pain, subfertility and painful periods. We have undertaken genetic studies that identified a number of candidate genes that show strong evidence for increasing a woman’s risk of having endometriosis. We now seek funding to investigate the functional roles that these endometriosis susceptibility genes play within the uterus, with the goal of identifying new treatments for endometriosis.
Gene Tests For Predicting Risk Of Developing Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$956,020.00
Summary
Glaucoma is a common cause of blindness. It is currently difficult to predict which patients with the earliest signs of glaucoma will go on to develop the blinding stages of the disease. This study will investigate how genes and othe eye measurements can be used to predict risk of developing glaucoma in people with early signs of disease.
Interactions Between H5N1 And The Respiratory Epithelium
Funder
National Health and Medical Research Council
Funding Amount
$623,065.00
Summary
This project examines the hypothesis that the severity of H5N1 infection is due to activation of signalling pathways in the lung not activated by human influenza and leads to fluid accumulation in the lungs death of respiratory cells. This study will improve our understanding of influenza infection and identify targets for treatment of H5N1.
Activation Of TERT Gene Expression In Breast Carcinogenesis
Funder
National Health and Medical Research Council
Funding Amount
$693,440.00
Summary
A key step in the development of most cancers is the switching on of an enzyme, telomerase, that allows cancer cells to keep growing without limit. We will study the molecular details of this step using new techniques for functional analyses of the genome in human breast cells grown in the laboratory. Blocking telomerase has great potential for cancer treatment, so analysing how this enzyme gets switched on may identify new strategies for achieving this for breast cancer - and other cancers.
Advanced Whole-genome Approaches For Causative Variant Detection And Individual Risk Prediction Of Complex Traits In Human Populations.
Funder
National Health and Medical Research Council
Funding Amount
$356,014.00
Summary
The genomics era has demonstrated the true complexity of complex genetic traits, but brings promise for personalised genomic medicine in which diagnosis and treatment are tailored to individuals based on profiles recorded in their genome. This project aims to develop advanced statistical methods to better detect causative variants and to better predict an individual’s risk of disease. Our methods may lead to predictions of risk of disease for individuals that have clinical utility.
Risk prediction models incorporating multiple risk factors (including genetic markers) are a recognised method to identify individuals at high risk of developing breast or colorectal cancer, but it is uncertain which model(s) currently perform best in a population setting. We aim to compare the predictive ability of each available model. Knowing which model performs best will facilitate early diagnosis, reduce overall costs by better targeting interventions and improve cancer survival.
Novel Analgesic Approaches: Harnessing Functional Interactions Between Sodium Channels And Opioids
Funder
National Health and Medical Research Council
Funding Amount
$329,076.00
Summary
Chronic pain is a debilitating condition that affects the life of one five Australians and has significant socioeconomic impact. Currently available pain killers often do not work, or have intolerable side effects. We have discovered that combination treatment with opioids and a novel venom-derived compound discovered by us provides effective pain relief. The aim of this project is to understand the mechanisms underlying this synergistic effect to develop new treatment approaches for pain.
Do Breast Cancer Risk Factors Differ According To Underlying Genetic Susceptibility? A Pooled Analysis Of Prospective Studies From The NCI Cancer Cohort Consortium
Funder
National Health and Medical Research Council
Funding Amount
$418,581.00
Summary
We propose to use data from 23 international prospective cohort studies in the Cancer Cohort Consortium organised by the US National Cancer Institute to evaluate gene environment interactions for women who are at increased genetic risk of breast cancer. Our ultimate goal is to enhance the performance of clinical prediction tools and to develop targeted evidence-based strategies to mitigate the high absolute risk of breast cancer for women at increased genetic risk of the disease.
Silencing Visceral Nociceptors By Targeting NaV1.1: A Novel Therapeutic Approach For Treating Irritable Bowel Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$696,809.00
Summary
Patients with Irritable Bowel Syndrome suffer from chronic abdominal pain and co-morbidities such as over-active bladder. These symptoms arise from sensory nerve fibres in the colon and bladder that signal pain to innocuous stimuli. We are excited to report that a specific voltage-gated sodium channel, called NaV1.1, plays a key pathological role in generating these symptoms. Here, we will specifically target and block NaV1.1 expressing pain-sensing neurons, provide key advances for therapies.