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.
Variation in our genetic makeup can cause serious brain disorders such as epilepsy. The goal of this research is to determine how variation in an epilepsy patients genes produce fundamental changes in brain function that lead to epilepsy. This is a multidisciplinary program that combines clinical, genetic, electrophysiological, morphological and computational approaches to create a fundamental understanding of the genesis of this important disease.
Modelling Epileptic Encephalopathies Using Induced Stem Cells
Funder
National Health and Medical Research Council
Funding Amount
$506,489.00
Summary
Genetics is poised to have a massive impact on how we diagnose and treat diseases. Precision medicine is a relatively new concept that has been put forward to encompass approaches to finding genetic and functional markers of a disease process so that better treatments that are specifically targeted to a specific patients pathology. Here we will explore the development of stem cells to create "disease in a dish" models for severe forms of epilepsy to be used for development of new therapies.
National Centre For Research Excellence In Neuromuscular Disorders: Transforming The Management Of Neuromuscular Disorders From Compassionate Assistance To Targeted Therapy And Prevention
Funder
National Health and Medical Research Council
Funding Amount
$2,805,509.00
Summary
Neuromuscular disorders affect 1 in 1,000 people, often result in progressive muscle weakness and can cause early death. At present not enough is being done to ensure translation of research into improved outcomes for patients. For the first time in Australia, the CRE-NMD will establish an integrated, comprehensive program to investigate diagnosis, prevention and treatment of neuromuscular disorders from infancy to adulthood.
Interrogation Of Two Novel Genetic Susceptibility Loci For Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$840,615.00
Summary
This proposal, from the Australia and New Zealand multiple sclerosis (MS) Genetics Consortium, aims to interrogate two new genes that it recently identified as predisposing for the development of MS. Both of the genes underlying these findings are also associated with risk of developing other autoimmune diseases such as type 1 diabetes, rheumatoid arthritis and Graves' disease.
DISCOVERY OF GENES THAT PROTECT AGAINST TAU-INDUCED NEUROPATHOLOGY
Funder
National Health and Medical Research Council
Funding Amount
$921,764.00
Summary
Dementia incurs $5 billion of direct health costs, affects 300,000 Australians and its incidence is increasing. New treatments are urgently needed. Dementia is associated with tau protein aggregates in the brain. Finding genes that prevent symptoms caused by tau aggregates will help develop new treatments, but identifying such genes has been very difficult and expensive. We will use our world-leading resource to revolutionize gene discovery and identify genes that can protect against dementia.
A Novel Cytoskeletal Structure In Muscle Is Associated With Muscular Dystrophy
Funder
National Health and Medical Research Council
Funding Amount
$371,250.00
Summary
A NEW PROTEIN NETWORK IN MUSCLE IS ASSOCIATED WITH MUSCLE DISEASE An intricate protein network connects the contracting mechanism of a muscle to the surrounding cell membrane. Disruption of this connection is one of the known causes of muscular dystrophy. For many patients however the cause of the disease is unknown. We have identified a new region within this protein network that is also associated with muscle disease in mice. A number of proteins that are involved in transmitting chemical mess ....A NEW PROTEIN NETWORK IN MUSCLE IS ASSOCIATED WITH MUSCLE DISEASE An intricate protein network connects the contracting mechanism of a muscle to the surrounding cell membrane. Disruption of this connection is one of the known causes of muscular dystrophy. For many patients however the cause of the disease is unknown. We have identified a new region within this protein network that is also associated with muscle disease in mice. A number of proteins that are involved in transmitting chemical messages from one part of the muscle cell to another are found at this same location. It is possible that disruption of these messages may lead to muscle disease. This project aims to establish the nature of the relationship between the proteins found in this newly identified region of the protein network and muscle diseases such as muscular dystrophy, in both animal models and in humans. We expect that this project may identify new markers for identifying the cause of muscle diseases in some patients and lead to better hopes for an eventual cure.Read moreRead less
Identification Of Parkinson's Disease Genes In Queensland Families Showing Patterns Of Mendelian Inheritance.
Funder
National Health and Medical Research Council
Funding Amount
$466,759.00
Summary
In rare cases, Parkinson's disease can be inherited through the generations of a family and it is possible to identify genetic changes that lead to this type of disease. This project aims to use new genetic sequencing technologies in several Australian families with inherited PD to find new genes that cause disease. This research will not only help these families but will teach us more about the reasons brain cells degenerate in this condition and other similar age-related brain diseases.
Advancing The Diagnosis And Treatment Of Inherited Muscle Disorders
Funder
National Health and Medical Research Council
Funding Amount
$408,388.00
Summary
Inherited myopathies collectively affect ~1 in 1000 people, cause life-long disability and often shortened life. This fellowship addresses two key areas of need. 1. New gene discovery for the inherited myopathies using the latest genetic techniques and 2. developing therapies. I will test two recently developed drugs as potential treatments for tropomyosin myopathies and investigate key areas of disease mechanism for tropomyosin and RYR1 myopathies to identify new therapeutic targets.
Stroke is a devastating disease affecting 50,000 Australians and over 5 million people globally every year. The overall aims are to develop better knowledge, better tools and more effective strategies to treat and prevent stroke. Projects include discovery of new genetic stroke risk factors, better management of recognised risk factors, trials of treatment strategies for acute stroke, and the investigation of strategies for more effective implementation of treatments.