Improving The Diagnosis Of Disorders Sex Development (DSD)
Funder
National Health and Medical Research Council
Funding Amount
$818,997.00
Summary
Disorders of sexual development (DSDs) are surprisingly common, and often result in genital abnormalities, gender mis-assignment, infertility and psychological trauma. We will use our expertise in human genetics, molecular cell and developmental biology, to find genes important for sex development, identify gene defects that cause DSD, and study their functions. We will liaise with clinicians to apply these findings to the accurate diagnosis and medical care of DSD in children.
ASIC1a, A New Therapeutic Drug Target For Cardiac Ischemia
Funder
National Health and Medical Research Council
Funding Amount
$1,382,224.00
Summary
Cardiovascular disease is the biggest killer in the world, in large part due to the lack of drugs to protect the heart from the damage caused by injuries such as heart attack. Our team of world-leading scientists and clinicians has identified a novel therapeutic target (ASIC1a) against which drugs could be targeted to protect the heart against these injuries. The aim of this project is to develop novel cardioprotective drugs that target ASIC1a so we can test them in human clinical trials.
Uncovering The Neural Mechanisms Of Obsessive-compulsive Disorder Using Brain Modelling
Funder
National Health and Medical Research Council
Funding Amount
$581,628.00
Summary
Obsessive-compulsive disorder (OCD) is an incurable mental illness and current therapies only mitigate its symptoms for a portion of individuals. Thus, there is a need to identify the neural causes of OCD to develop personalised therapies. We will combine mathematical modelling, computer simulations, and clinical and neuroimaging data to develop the first model of OCD. Outcomes from this study will enable targeted OCD research and the discovery of brain mechanisms supporting treatment response.
Novel Genomic Approaches To Identify The Missing Genetics Underlying Skeletal Muscle Disease.
Funder
National Health and Medical Research Council
Funding Amount
$1,935,965.00
Summary
Skeletal muscle diseases can result in death in infancy or cause life-long and significant physical disability. Many families do not have a genetic explanation for their condition. We will use established and new technologies to find the missing genetics causing these devastating diseases. Our work has world-wide impact for the patients and families affected by these diseases.
Advancing Enhanced Biosecurity Of Major Arboviral And Other Vector-borne Diseases In Australia Through Near Infrared Spectroscopy Technology
Funder
National Health and Medical Research Council
Funding Amount
$754,983.00
Summary
Infectious diseases transmitted by mosquitoes and ticks represent a significant health threat to the Australian biosecurity. Current detection methods for these pathogens are expensive, time consuming and require highly trained personnel. We propose to conduct a set of experiments to test an innovative, real time technique based on infrared light to identify infected mosquitoes and ticks and demonstrate its capacity as surveillance tool for vector control programs against these pathogens.
Substandard Bed Nets And Malaria: Causes, Impact And Solutions
Funder
National Health and Medical Research Council
Funding Amount
$827,057.00
Summary
Long-lasting insecticidal nets (LLIN) are a cornerstone of malaria control. LLIN undergo strict testing overseen by WHO and are subject to inspections prior to delivery to recipient countries. Despite this, we found that LLINs delivered to Papua New Guinea (PNG) between 2013 and 2019 were ineffective against malaria mosquitoes. Concurrently we observed a massive rise in malaria in PNG. This study is aimed at understanding the causes and impact of substandard LLINs on the global malaria burden.
Biomechanics Meets Phenomics: Towards Understanding And Predicting Abdominal Aortic Aneurysm (AAA) Disease Progression
Funder
National Health and Medical Research Council
Funding Amount
$1,324,897.00
Summary
The criterion used to decide whether to operate on an abdominal aortic aneurysm (AAA), based on the maximum diameter, does not take into consideration the rupture risk for a given patient. By combining imaging, computational biomechanics and metabolic phenotyping, we will assess the structural integrity of an AAA and local structural changes of systemic response. These will allow improved differentiation of rupture risk, leading to better outcomes for patients and savings for the health system.
Investigating A New Regulator Of Cardiac Rhythm In Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,022,704.00
Summary
Cardiac arrhythmias affect a high proportion of the population (2-5%) and can cause sudden death. Whilst the aetiology of arrhythmia can vary, there are clear genetic causes. Unfortunately, our knowledge of the genetic contributors is incomplete, hampering efforts to interpret genetic sequencing information. This project will undertake functional analyses of a novel arrhythmia gene and establish where, when and how it is required for correct cardiac rhythm.
Using Novel Point-of-care Diagnostic Tests And Mathematical Modelling To Achieve Hepatitis B Elimination: The Rapid B Study
Funder
National Health and Medical Research Council
Funding Amount
$381,948.00
Summary
Liver cancer is increasing rapidly in Australia and globally and depite hepatitis B virus infection being the leading cause, treatment rates are low. We have developed innovative point-of-care blood tests that use a single droplet of blood to measure liver damage, that will help overcome barriers to treatment uptake worldwide. The Rapid B Study will use mathematical modelling to investigate the most cost-effective way to combine these novel tests with treatment to reduce liver cancer deaths.