Neuro-Cardiac Genetic Basis Of Sudden Unexpected Death In Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$575,288.00
Summary
Sudden unexpected death in epilepsy (SUDEP) is the most common epilepsy-related cause of death and accounts for up to 18% of all deaths. SUDEP is characterised by a sudden and unexpected death, where the post-mortem is normal. The underlying cause of SUDEP remains unknown. This study seeks to investigate the genetic causes of SUDEP. Identification of the causes of SUDEP has important implications for our understanding of disease mechanisms, and in translating these discoveries into both diagnost ....Sudden unexpected death in epilepsy (SUDEP) is the most common epilepsy-related cause of death and accounts for up to 18% of all deaths. SUDEP is characterised by a sudden and unexpected death, where the post-mortem is normal. The underlying cause of SUDEP remains unknown. This study seeks to investigate the genetic causes of SUDEP. Identification of the causes of SUDEP has important implications for our understanding of disease mechanisms, and in translating these discoveries into both diagnostic and prevention strategies in at-risk families.Read moreRead less
Sudden cardiac death (SCD) is a tragic consequence of a number of heart diseases. The death is often unexpected and has major implications for the family and community. This 3-year study seeks to evaluate clinical, genetic, and long-term outcomes in Australian families where SCD has occurred in a young relative (aged 1-35 years). This study will improve clinical and genetic evaluation of families, resulting in targeted management strategies, with the ultimate goal to prevent SCD.
New Gene Discovery In Familial Hypertrophic Cardiomyopathy
Funder
National Health and Medical Research Council
Funding Amount
$418,493.00
Summary
Familial hypertrophic cardiomyopathy is a genetic heart disorder which affects 1 in 500 of the population, and can lead to heart failure and sudden death. Identification of the genetic causes of hypertrophic cardiomyopathy has important implications for our understanding of this disease, and in translating these genetic discoveries into better diagnostic and prevention strategies in at-risk families. This research proposal seeks to perform a comprehensive clinical and genetic investigation of pe ....Familial hypertrophic cardiomyopathy is a genetic heart disorder which affects 1 in 500 of the population, and can lead to heart failure and sudden death. Identification of the genetic causes of hypertrophic cardiomyopathy has important implications for our understanding of this disease, and in translating these genetic discoveries into better diagnostic and prevention strategies in at-risk families. This research proposal seeks to perform a comprehensive clinical and genetic investigation of people with familial hypertrophic cardiomyopathy.Read moreRead less
Preclinical Assessment Of Gene Therapy For Ventricular Arrhythmia
Funder
National Health and Medical Research Council
Funding Amount
$801,079.00
Summary
Up to 10% of patients are at risk of sudden death following myocardial infarction. Current treatment and preventative initiatives have their limits and are not without risk. In this proposal we will continue to develop an exciting new treatment approach using gene therapy technology. We will attempt to overcome some of the barriers for human application of this technology and pave the way for early phase clinical trials.
The Structural Basis For Promiscuity Of Drug Binding To HERG K+ Channels
Funder
National Health and Medical Research Council
Funding Amount
$713,035.00
Summary
Special proteins called ion channels control the electrical activity of the heart. Drugs that block ion channels can have the unwanted side-effect of altering the rhythm of the heart beat and causing sudden cardiac death. Extensive efforts are made to screen for this problem during drug development but it is still an inexact science. Here we will use high resolution imaging technologies to get a better understanding of how drugs bind to ion channel proteins.
Cardiac Resynchronisation Therapy And AV Node Ablation For Atrial Fibrillation In Heart Failure
Funder
National Health and Medical Research Council
Funding Amount
$3,274,979.00
Summary
Heart failure (HF) and Atrial Fibrillation (AF) are both significant health issues that often coexist. Cardiac resynchronisation therapy (CRT) is a proven therapy for HF with ventricular dyssynchrony (uncoordinated contraction of the left ventricle). While CRT reduces symptoms and improves survival in normal rhythm, there are mixed reports in patients with AF. This prospective randomised multicentre study, will assess the role of AV node ablation to improve outcomes in CRT in AF.
Serial NT-proBNP Monitoring For Predicting Major Cardiovascular Events In The Dialysis Population
Funder
National Health and Medical Research Council
Funding Amount
$288,548.00
Summary
Dialysis patients have a 50-100 fold increased risk of dying from heart disease caused by abnormal heart muscle structure and function. Current tests are unable to accurately identify patients at the highest risk. A test that accurately detects the early stages of heart injury is urgently needed. The aim of our research is to develop a monitoring guide using regular testing of a heart hormone (NT-proBNP) to identify high-risk dialysis patients early allowing treatment before a serious medical co ....Dialysis patients have a 50-100 fold increased risk of dying from heart disease caused by abnormal heart muscle structure and function. Current tests are unable to accurately identify patients at the highest risk. A test that accurately detects the early stages of heart injury is urgently needed. The aim of our research is to develop a monitoring guide using regular testing of a heart hormone (NT-proBNP) to identify high-risk dialysis patients early allowing treatment before a serious medical complication occurs.Read moreRead less
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
Caspase 8 Apoptotic Signalling Induced By The Inflammasome
Funder
National Health and Medical Research Council
Funding Amount
$603,126.00
Summary
The death of cells of our body can be an active and purposeful process. Programmed death occurs in response to infection or as a defence against cancerous changes. If a virally infected cell can die prior to replication of the virus, this will control the infection. We have investigated cell death in response to DNA found in the cytoplasm of cells, which can be an indication of infection. The novel cell death pathway we are characterising is relevant to defence against infection and tumours.
Only recently has it emerged that our cells have a built-in backup mechanism that instructs cells to die in extreme cases, such as when viruses have hijacked a cell. A misfiring backup mechanism is thought to underlie a number of human diseases, including inflammatory disease. Our investigation will establish a starting point for the development of novel anti-inflammatory drugs.