Evaluation Of Pathogenic Mechanisms Involved In Nuclear And Mitochondrial DNA-encoded Mitochondrial Disorders
Funder
National Health and Medical Research Council
Funding Amount
$196,527.00
Summary
Mitochondria produce energy for the cell. Disorders of mitochondrial function can cause human disease. These diseases are referred to as the mitochondrial disorders. Mitochondrial disorders usually involve multiple tissues, particularly the muscle and brain.These disorders are usually caused by mutations in two different types of DNA; nuclear and mitochondrial DNA. There are many forms of mitochondrial disorders; some affect young children or infants and others cause adult disease. In some cases ....Mitochondria produce energy for the cell. Disorders of mitochondrial function can cause human disease. These diseases are referred to as the mitochondrial disorders. Mitochondrial disorders usually involve multiple tissues, particularly the muscle and brain.These disorders are usually caused by mutations in two different types of DNA; nuclear and mitochondrial DNA. There are many forms of mitochondrial disorders; some affect young children or infants and others cause adult disease. In some cases, genetic defects may cause the same disease and other mutations may cause a wide range of symptoms. The reason why this occurs is unknown. This study investigates several factors that may determine why some mutations lead to a certain disease and why others may cause different diseases. These factors include the variation in energy levels that are produced by the mutant cells, and the different levels of vunerability that mutated cells may have to induced cell death. The goal of this proposal is to identify the factors that lead to mutations causing different clinical symptoms with the overall aim being to design treatment for these chronic diseases.Read moreRead less
I aim to understand the genetics of the epilepsies. Through detailed analysis of different types of epilepsy, and associated features such as intellectual disability and autism, I will describe new epilepsy syndromes, and together with gene discovery, implement novel targeted therapies. This translational program will transform clinical practice by informing diagnosis, prognostic and genetic counseling, and lead to targeted precision therapies to improve outcomes for each patient.
Autoimmune Channelopathies In Paediatrics Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$47,877.00
Summary
Epilepsy is one of the commonest neurological disorders. Some children with epilepsy have a known cause for their epilepsy; however in most cases the cause is unknown. One of the proposed causes is auto antibodies targeted against specific brain channels, resulting in seizures. This study will determine whether some patients with epilepsy have antibodies in the blood that lead to epilepsy. By defining an immune mediated epilepsy, we can treat and stop the epilepsy.
The Incidence And Genetics Of The Infantile Epileptic Encephalopathies
Funder
National Health and Medical Research Council
Funding Amount
$175,224.00
Summary
Severe epilepsies with frequent seizures and cognitive impairments in the first 18 months of life are known as ‘infantile epileptic encephalopathies’ (IEE). The cause of IEE is unknown in many patients, although presumed genetic. This study of patients with IEE in Victoria aims to describe the incidence of IEE, and understand the genetic causes of IEE. Understanding the causes of IEE will be the first step towards development of urgently-needed novel therapies for these devastating conditions.
Advances In The Understanding Of Autoimmune Encephalitides And Associated Movement Disorders In Children
Funder
National Health and Medical Research Council
Funding Amount
$68,832.00
Summary
Encephalitis in childhood can be devastating with long lasting effects and mortality. This research focuses on children who suffer from encephalitis due to an autoimmune process. In such cases many children present with involuntary abnormal body movements. This project will explore whether differences in the nature of these movements or in electroencephalography or brain imaging with MRI, can help early differentiation of different types of autoimmune encephalitis.
Preventing Adverse Outcomes Of Neonatal Hypoxic Ischaemic Encephalopathy With Erythropoietin: A Randomised Controlled Multicentre Australian Trial
Funder
National Health and Medical Research Council
Funding Amount
$2,103,844.00
Summary
One in five babies die worldwide from Hypoxic Ischaemic Encephalopathy caused by low oxygen or blood supply to the brain around birth. Survivors often have low IQ, cerebral palsy, epilepsy or autism. Cooling the baby after birth (hypothermia) reduces the severity of brain damage, but half still die or are disabled. This randomised, controlled trial will test whether Erythropoietin (a natural hormone) can further protect and repair these babies' brains, saving lives and preventing disability.
Stem Cell Treatment For Neonatal Hypoxic Ischaemic Encephalopathy
Funder
National Health and Medical Research Council
Funding Amount
$954,195.00
Summary
Hypoxic-ischaemic encephalopathy occurs when the fetus receives inadequate oxygen in labour and many babies die or have brain damage. Stem cell therapy might save these babies from brain damage but there are many unknowns, such as which stem cells to use and how many. Through our skills in stem cells and measuring the rescued brain following injury, we will determine the necessary details for the most effective stem cell therapy to be ready to immediately test the treatment in a RCT in babies.
A Mechanistic Approach To Therapy Development For Chronic Traumatic Encephalopathy Using Small And Large Animal Models Of Concussion
Funder
National Health and Medical Research Council
Funding Amount
$492,844.00
Summary
Repeated concussion in athletes has recently been associated with the development of a neurodegenerative disorder known as chronic traumatic encephalopathy (CTE). While the neuropathology seems to be well characterised, the mechanisms associated with CTE development are not. This proposal will demonstrate that mechanically induced release of the neurotransmitter substance P accounts for much of the neuropathology in CTE, and will develop a novel therapy that will prevent such development.
Transfer Of Glutamine Between Astrocytes And Neurons
Funder
National Health and Medical Research Council
Funding Amount
$255,500.00
Summary
Brain tissue is comprised of only a few different cell types. These are classified as neurons, glial cells, and cells of mesodermal origin. Glial cells are the most abundant cell type in the brain and include cells known as astrocytes. There is increasing evidence that astrocytes are actively involved in the maintenance and regulation of neuronal function. This study focuses on the mechanisms by which astrocytes supply neurons with precursors for the formation of signalling molecules (neurotrans ....Brain tissue is comprised of only a few different cell types. These are classified as neurons, glial cells, and cells of mesodermal origin. Glial cells are the most abundant cell type in the brain and include cells known as astrocytes. There is increasing evidence that astrocytes are actively involved in the maintenance and regulation of neuronal function. This study focuses on the mechanisms by which astrocytes supply neurons with precursors for the formation of signalling molecules (neurotransmitters) released from neurons in the transmission of nerve impulses. It will establish how these processes are controlled and also try to develop inhibitors that interfere with this process . The project tries to elucidate whether astrocytes actively regulate neuronal functions by regulating precursor supply. The work will make a significant contribution to our understanding of how astrocytes regulate neuronal activity, a process that may be critical in conditions such as stroke and epilepsy. A better understanding of the physiology of astrocytes might lead to improved treatments for these disturbances of brain function.Read moreRead less