Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. A new clinical subgroup of HCM patients who are essentially gene carriers, referred to as "Genotype Positive Phenotype Negative" has arisen as a result of genetic testing in at-risk family relatives. Little is known about the natural history and long-term clinical outcomes of this new clinical subgroup. Understanding these factors is vital to the development of management guidelines that will lead to the best possible ou ....Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. A new clinical subgroup of HCM patients who are essentially gene carriers, referred to as "Genotype Positive Phenotype Negative" has arisen as a result of genetic testing in at-risk family relatives. Little is known about the natural history and long-term clinical outcomes of this new clinical subgroup. Understanding these factors is vital to the development of management guidelines that will lead to the best possible outcome for these patients.Read moreRead less
Management Of Families With A Genetic Cause Of Sudden Cardiac Death
Funder
National Health and Medical Research Council
Funding Amount
$307,946.00
Summary
Sudden cardiac death (SCD) is a tragic complication of a number of genetic heart diseases, where families have to cope with the grief of losing a family member and the risk to themselves. This research seeks to better understand the psychosocial impact to family members; to determine what access and services families are currently provided with; and to determine the cost-effectiveness of family management strategies. The ultimate goal is that every family will have access to high-quality and cos ....Sudden cardiac death (SCD) is a tragic complication of a number of genetic heart diseases, where families have to cope with the grief of losing a family member and the risk to themselves. This research seeks to better understand the psychosocial impact to family members; to determine what access and services families are currently provided with; and to determine the cost-effectiveness of family management strategies. The ultimate goal is that every family will have access to high-quality and cost-effective management practices.Read moreRead less
Balance disorders are very common, but particularly in those conditions that involve the brain 'balance centres' are often difficult for doctors to diagnose. When diseases are difficult to diagnose, then recommending helpful treatment is particularly challenging. We will use a group of specialized tests to better understand these balance conditions in order to help patients receive accurate diagnoses and therefore, better treatment.
Can Nanoparticles Give An Old Iron Chelator A New Life? — Development Of Targeted Polymeric Nanoparticles With Long Half-lives To Treat Iron Overload Diseases
Funder
National Health and Medical Research Council
Funding Amount
$314,644.00
Summary
Iron loading disorders (such as thalassaemia) represent an important class of human disease. As part of the treatment for these diseases, the iron needs to be removed and this is often done using iron-binding drugs known as iron chelators. Current chelators are not ideal due to side effects or onerous delivery methods. The goal of this project is to use nanotechnology to develop more effective ways of delivering chelators to improve their effectiveness and reduce toxicity.
Positive Allosteric Modulation Of Metabotropic Glutamate Receptor 5; A Novel Approach For The Treatment Of Schizophrenia And Cognitive Disorders
Funder
National Health and Medical Research Council
Funding Amount
$348,428.00
Summary
The metabotropic glutamate receptor subtype 5 (mGluR5) has emerged as an exciting new target for the treatment of schizophrenia and cognitive disorders. We will investigate novel drug-binding sites on these receptors with the aim to discover new therapeutics. These studies also aim to definitively characterize mGluR5 activity following treatment with novel compounds to improve our understanding of the normal function of these important receptors.
The Association Of Distorted Central Processing, Small Axon Dysfunction And Inflammation In Patients With Carpal Tunnel Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$406,431.00
Summary
The mechanisms underlying pain in carpal tunnel syndrome (CTS), which results from compression of a nerve at the wrist, are not well understood. In a combination of human and animal studies, we will examine whether the pain involves abnormalities of skin and brain function and whether inflammation in the nervous system may be responsible for such abnormalities. We will test whether surgical outcome can be predicted by these variables. Accurate predictive tests would avoid unnecessary surgery.