Delivering Precision Diagnosis To Patients With Mitochondrial Disease: Using Digital Technologies To Enhance The Delivery Pathway To Provide An Accurate Genetic Diagnosis For Patients With Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,273,553.00
Summary
Mitochondrial disease (MD) is the most common inherited metabolic condition. MD can be diagnosed by using whole genome sequencing (WGS) and enables treatment and accurate family planning. We will create a web-base platform to support the diagnosis and treatment of patients with or suspected to have MD. Using a custom-built web-based platform, telemedicine and automated software we will integrate care by primary care givers and MD experts to deliver a precise genetic diagnosis to our MD patients.
Targeting The Mitochondrial Transcriptome To Treat Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$456,836.00
Summary
Mitochondrial diseases are a diverse group of progressive and debilitating disorders for which there are no effective treatments. Furthermore it is currently impossible to apply gene therapy or RNA interference approaches to understand how mitochondria function or to treat mitochondrial diseases. We are developing a new technology that makes it possible to rationally manipulate mammalian mitochondrial RNAs for the first time, providing a unique approach for mitochondrial disease therapies.
Mitochondrial Enzyme Regulates RNA Metabolism In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$67,381.00
Summary
Mitochondria are microscopic, energy producing machines that are found in all human cells. Mitochondria contain a small set of genes that must work properly to make the energy our bodies require for health. Defects in the expression of genes coding for mitochondrial proteins causes debilitating diseases for which there are effective treatments. I will investigate how a mitochondrial protein whose dysfunction is known to cause a metabolic disease regulates mitochondrial gene expression.
Regulation Of RNA Processing In The Mitochondrial Disease MELAS
Funder
National Health and Medical Research Council
Funding Amount
$520,977.00
Summary
Mitochondria are microscopic, energy producing machines that are found in all human cells. Mitochondria contain a small set of genes that must work properly to make the energy our bodies require for health. Defects in the expression of mitochondrial genes cause debilitating diseases for which there are currently no cures. We have developed a new set of technologies that will be applied to understand how these mutations cause disease and provide insights into possible treatments.
Regulation Of Mitochondrial Gene Expression In Disease
Funder
National Health and Medical Research Council
Funding Amount
$697,209.00
Summary
Mitochondria are microscopic powerplants that produce most of the energy in cells. Genes that make mitochondrial proteins must work properly to make the energy our bodies require for health. Defects in the expression of mitochondrial genes cause debilitating diseases for which there are no cures currently. A/Prof Filipovska will use new technologies to understand how these mutations cause disease and develop therapeutics for treatments of diseases caused by defects in mitochondrial genes.
Improving Diagnosis, Treatment And Prevention Of Mitochondrial Disease
Funder
National Health and Medical Research Council
Funding Amount
$487,891.00
Summary
The goal of this work is to use state-of-the-art research methods to improve clinical practice and the health outcomes for patients with mitochondrial disease and other neurological disorders. Professor Sue will undertake an integrated program involving clinical studies, bioinformatics, tissue culture and in vitro cell modelling to discover better ways to treat mitochondrial disease and other neurological diseases due to impaired mitochondrial function.
Carolyn Sue is a neurologist and scientist investigating the role of disturbed mitochondrial function in human disease. Mitochondria play a key role in maintaining energy levels and the cell’s health. When this function is impaired, cells may degenerate or die, and thus cause human disease. Dr Sue’s research is aimed at seeking improved treatments to treat mitochondrial disease and to further understanding about how brain cells degenerate when the mitochondria fail.
OXPHOS Upregulation To Preserve Vision In Leber's Hereditary Optic Neuropathy
Funder
National Health and Medical Research Council
Funding Amount
$496,874.00
Summary
Leber's Hereditary Optic Neuropathy (LHON) is a devastating blinding disease that preferentially affects young men. Sufferers have normal vision until teenage years or their twenties when a rapid loss of vision occurs that results in permanent blindness. It is caused by genetic changes in the mitochondrial DNA that we inherit from our mothers. The mitochondria are the cells' energy generators. We aim to use molecules similar to female hormones to boost energy as a new treatment to preserve visio ....Leber's Hereditary Optic Neuropathy (LHON) is a devastating blinding disease that preferentially affects young men. Sufferers have normal vision until teenage years or their twenties when a rapid loss of vision occurs that results in permanent blindness. It is caused by genetic changes in the mitochondrial DNA that we inherit from our mothers. The mitochondria are the cells' energy generators. We aim to use molecules similar to female hormones to boost energy as a new treatment to preserve vision in at-risk LHON individuals.Read moreRead less