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.
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.
Investigating The Consequences, Pathogenesis, And Treatment Of Repeated Brain Concussions In A Novel Rodent Model
Funder
National Health and Medical Research Council
Funding Amount
$513,752.00
Summary
Concussions are now recognized as a serious medical issue. There is particular concern for individuals who are at high risk of suffering concussions, such as soldiers and athletes, as evidence indicates that repeated concussions are associated with neurodegenerative disease. Here we will use an animal model of repeated concussion to examine these injuries. These studies will increase our understanding of concussion, and hold important implications for their management in the clinical setting.
Investigating Mechanisms Of Dementia And Motor Neuron Disease
Funder
National Health and Medical Research Council
Funding Amount
$303,924.00
Summary
Dementia and motor neuron disease (MND) are both neurodegenerative diseases which have devastating impacts on patients and their families. My research investigates the biochemical mechanisms involved in these diseases. Pathology in the nervous system of dementia and MND patients contains a protein called ‘TDP-43’, but it remains unknown how this causes disease. This project will therefore explore the effects of TDP-43 malfunction, which will provide insight into potential therapeutic strategies.