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Sickle Cell Disease was the first molecular disease described in man, and is the most prevalent. In some African countries, India and the Middle East, up to 20% of the population carry the sickle gene mutation. In developing countries, 90% of children die before 5 years of age. In developed countries, patients suffer a lifetime of chronic pain and die ~20 years early. We will employ new gene editing approaches to repair the mutation or recruit fetal hemoglobin to cure SCD in human samples.
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.
This project will develop a smart bone healing gel to bridge fragments of bone defects leading to stem cell recruitment, reduced inflammation, and blood supply for fracture healing. The design of the smart bone healing gel is based on the structures and properties of functional tissue healing hematoma in wound healing.
This study aims to elucidate central pathways which can be manipulated to drive the storage of excess energy away from fat and instead directing it into the production of bone mass. Having identified leptin-responsive NPY neurons as important in the control of energy partitioning, we will focus on manipulating these neurons in the hypothalamus using innovative technology to alter body composition. This research has the potential to result in novel treatments for obesity and osteoporosis.
Defining The Genes That Dictate The Cellular Response To Tumour Protein TP53 Activation
Funder
National Health and Medical Research Council
Funding Amount
$784,896.00
Summary
The tumour suppressor TP53 prevents the growth of abnormal cells by activating processes such as cell death and irreversible growth arrest. A cell will undergo only one of these possible responses, but it is not known why some cells die and others only stop growing. We will use innovative methods to define the genes that dictate the cellular response to TP53 activation. This research has implications for cancer, as many therapeutics aim to permanently kill cancer cells by activating TP53.
Understanding How The E3 Ubiquitin Ligase Parkin Dictates Neuronal Survival
Funder
National Health and Medical Research Council
Funding Amount
$947,560.00
Summary
Parkinson's disease is the fastest-growing neurodegenerative disorder, and the second most common neurodegenerative disease after Alzheimer's disease. The disease arises due to the loss of specific neurons in the brain that control motor function. We aim to understand what triggers these neurons to die and to resolve how inflammation promotes disease. This information will underpin the development of the first, and much needed, drugs that slow or stop Parkinson's disease progression.
Evidence For Action On Cold, Damp And Mould In Australian Homes
Funder
National Health and Medical Research Council
Funding Amount
$955,649.00
Summary
We know that living in cold and damp homes is bad for people's health. Surprisingly in Australia we do not know how much exposure to poor conditions and financial hardship combines to generate poor health at the population level. We will quantify this impact and estimate the benefit of interventions (such as mould removal and assistance for paying utility bills). This project will provide governments with evidence for tackling this housing-related health problem.
Integrating Biology And Medicine To Develop 3D-structure Guided Drug Design For Treatment Of Cardiovascular Disease
Funder
National Health and Medical Research Council
Funding Amount
$978,832.00
Summary
Calcium channel inhibitors are commonly prescribed for the treatment of heart disorders such as angina, hypertension, arrhythmias and hypertrophic heart disease. This class of drugs is one of the leading causes of drug-related fatalities. The impediment to designing better drugs is a lack of understanding of the 3 dimensional (3D) structure of the calcium channel. We will enable for the first time a 3D structure blueprint for the design of safe and highly selective calcium channel therapeutics.
A Practice Change For Patients With Severe Chronic, Clinically Unexplained Gastrointestinal Symptoms: A Randomised, Controlled Intervention To Assess Efficacy And Cost-effectiveness
Funder
National Health and Medical Research Council
Funding Amount
$1,276,080.00
Summary
Unexplained chronic gastrointestinal symptoms are extremely common and costly to the health system. Currently patients are managed in the hospital setting with the 'typical' face-to-face office-based model which sees the clinician spending valuable time gathering information and often treatments (e.g. allied health) delivered in a non-standard way. This project will evaluate the effectiveness of a new standard best-practice clinical model with a structured technology enabled management approach.
A Cellular Identity Crisis: Deciphering How Mammary Epithelial Cells Form And Maintain Their Identity
Funder
National Health and Medical Research Council
Funding Amount
$843,826.00
Summary
The ability to regenerate human organs from adult cells efficiently and without error is a major goal of biomedical research in Australia, with significant economic benefits. As one of the most regenerative organs in a woman's body, the breast is an excellent model to study mechanisms that underpin tissue growth and regrowth. Moreover, as these pathways are often hijacked by cancer, this research has important implications for the development of new targeted therapies to treat breast cancer.