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Correction Of Friedreich Ataxia Induced Pluripotent Stem Cells By Non-viral Gene Therapy
Funder
National Health and Medical Research Council
Funding Amount
$63,270.00
Summary
Friedreich ataxia (FRDA) is an inherited progressive disorder of the nervous system and heart. Stem cell therapy has the potential to repair or replace damaged tissues and restore organ function in FRDA patients. The defect inherent in stem cells obtained from FRDA patients will be corrected by a gene therapy approach that will restore normal FRDA gene expression and addresses major safety concerns for the clinical use of corrected stem cells in transplantation medicine.
Mapping Brain Network Interactions In Neurodegenerative Disorders Of The Subcortex
Funder
National Health and Medical Research Council
Funding Amount
$314,644.00
Summary
Huntington’s disease, Parkinson’s disease, and Friedreich ataxia are debilitating and progressive neurodegenerative disorders that result from cell death within different components of a common brain system. Using magnetic resonance imaging and advanced statistical techniques, I will investigate functional and structural changes within this system, providing a clearer picture of the brain network changes that underlie the expression of these disorders.
Investigating Friedreich Ataxia Cardiomyopathy And Ophthalmopathy Using Induced Pluripotent Stem Cells
Funder
National Health and Medical Research Council
Funding Amount
$136,205.00
Summary
There is no effective treatment for Friedreich ataxia (FRDA). Patients, usually diagnosed as children, will end up in wheelchairs; many have difficulty with movement, speech, develop eye problems and diabetes. Most die at a young age from heart failure. In this project we will study stem cells from patients with FRDA. In the laboratory, these stem cells will be turned into heart and eye cells to study why patients with FRDA develop symptoms and to help develop new drugs to provide effective trea ....There is no effective treatment for Friedreich ataxia (FRDA). Patients, usually diagnosed as children, will end up in wheelchairs; many have difficulty with movement, speech, develop eye problems and diabetes. Most die at a young age from heart failure. In this project we will study stem cells from patients with FRDA. In the laboratory, these stem cells will be turned into heart and eye cells to study why patients with FRDA develop symptoms and to help develop new drugs to provide effective treatment.Read moreRead less
A Longitudinal Neuroimaging Study Investigating Reorganisation Of Cerebellar-cerebral Networks In Friedreich Ataxia
Funder
National Health and Medical Research Council
Funding Amount
$816,908.00
Summary
Friedreich ataxia (FRDA) causes debilitating motor and cognitive deficits. We propose a longitudinal multi-modal magnetic resonance (MR) imaging study to measure different types of tissue in the brain in this disease. We seek to understand how the brain reorganises itself due to cell loss in the spinal cord, cerebellum and cerebral cortex. This study will establish sensitivity of a range of MR imaging measures as potential biomarkers for use in large multi-centre drug trials in this disease.
Developing Bone Marrow Transplant And Novel Therapeutic Vectors To Treat Friedreich Ataxia
Funder
National Health and Medical Research Council
Funding Amount
$598,163.00
Summary
We aim to develop effective therapies for the neuromuscular disease Friedreich ataxia (FRDA). The neurodegeneration inherent to FRDA slowly robs a person of the ability to move freely and care for themselves. It needs life-long medical support and there is no cure. FRDA lowers frataxin, a critical mitochondrial protein. Evidence indicates increasing frataxin can be beneficial. Using disease models, we will determine if increasing frataxin via bone marrow transplant or gene therapy improves FRDA.
A Randomised Placebo-controlled Crossover Trial Of Micronised Resveratrol As A Treatment For Friedreich Ataxia
Funder
National Health and Medical Research Council
Funding Amount
$556,287.00
Summary
Friedreich ataxia (FRDA) is the most common inherited cause of ataxia (incoordination). There are currently no treatments proven to slow or reverse its inexorable progression. We have shown that resveratrol holds promise as a treatment in an open-label study and now propose a placebo controlled study that will provide evidence of whether resveratrol can slow or reverse symptoms in this devastating disorder.
Cognitive And Social Functioning Of Children With Genetic Disorders
Funder
National Health and Medical Research Council
Funding Amount
$167,131.00
Summary
Significant medical advances have been made in the medical management of genetic conditions in children. Currently, very limited information is available on the cognitive and social consequences of genetic disorders in children despite the links to quality of life, learning and mental health. This project will provide detailed information on cognitive and social function associated with two types of genetic disorders. The findings will be of significant value to those who care for these children ....Significant medical advances have been made in the medical management of genetic conditions in children. Currently, very limited information is available on the cognitive and social consequences of genetic disorders in children despite the links to quality of life, learning and mental health. This project will provide detailed information on cognitive and social function associated with two types of genetic disorders. The findings will be of significant value to those who care for these children including parents, clinicians and teachers.Read moreRead less
A Systems Biology Approach To Elucidate Common Principles And Mechanisms Underlying Triplet Repeat Expansion Associated Genetic Defects
Funder
National Health and Medical Research Council
Funding Amount
$1,033,615.00
Summary
Several human genetic diseases that affect the nervous system occur due to expansions of the DNA repeats in the genome. Here, we use a combination of cutting edge technologies such as systems biology and genomics to uncover the common principles and use them to devise novel therapeutic strategies.
Evaluation Of Pharmacological Therapies For Friedreich Ataxia Using Cellular And Mouse Models
Funder
National Health and Medical Research Council
Funding Amount
$589,425.00
Summary
Friedreich ataxia (FRDA) is an inherited disorder of the nervous system and muscles. The genetic defect that causes FRDA results in reduced levels of an essential protein termed frataxin. By using information and resources generated as part of the Human Genome Project we have developed new techniques to study human gene expression in cellular and animal systems. Our aim is to identify and develop new pharmacological approaches for the restoration of FRDA gene expression and the therapy of FRDA.
Objectively Monitoring Neurodegenerative Disease Progression: Speech As A Clinical Marker
Funder
National Health and Medical Research Council
Funding Amount
$302,123.00
Summary
It is difficult to monitor disease progression in some neurodegenerative disorders like Huntington’s disease or types of dementia without using expensive and invasive assessment techniques. Yet, by repeatedly recording and analysing the speech (how we speak, not what we say) of a patient, we build up a picture of how the brain is functioning and changing over time. This will lead to a more personalized approach with more effective treatments being given to the right patients at the right time.