How Does Fampridine Affect Upper Limb Function In Multiple Sclerosis?
Funder
National Health and Medical Research Council
Funding Amount
$113,237.00
Summary
Multiple sclerosis (MS) is a common and disabling neurological disease affecting thousands of young Australians. In 2011 Fampridine received TGA approval for walking impairment in MS, but its mechanism of action is unknown and its effects on domains other than lower limb function remain untested. Our study will test whether Fampridine improves upper limb impairment in MS patients and will use electrophysiological measures of central nervous system conduction to uncover its mechanism of action.
Growth factors are essential molecules for normal brain development. Variations in the amount of the different growth factors have been implicated in such diseases as AlzheimerÍs and ParkinsonÍs disease. This project will study the precursor of a growth factor known as brain derived neurotrophic factor (BDNF) and what specific roles the precursor might play in brain development.
Advancing Diagnostics For The Congenital Muscular Dystrophies
Funder
National Health and Medical Research Council
Funding Amount
$69,500.00
Summary
The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatm ....The congenital muscular dystrophies are muscle diseases with onset in infancy. They cause slowly progressive weakness and increasing disability. For more than half, a specific diagnosis cannot be achieved with current diagnostic techniques, frequently generating significant anxiety for families. This research will use an exciting new genetic technique called exome sequencing to provide fundamental insights into the genetic basis of these diseases, thus improving diagnosis, counselling and treatment.Read moreRead less
Dietary Therapies For The Treatment Of Drug-resistant Epilepsy
Funder
National Health and Medical Research Council
Funding Amount
$69,757.00
Summary
Epilepsy affects about 225,000 Australians, with 30% of suffers still experiencing seizures despite being on medications. A reduction in seizures can significantly improve the health of people with epilepsy who do not respond to medications. Low carbohydrate, high fat diets are a well-established treatment option in children, but this has not previously been studied in Australian adults. The aim of this research is to evaluate if dietary therapies are an effective treatment in adult epilepsy.
Patients with a first seizure (FS) presenting to EDs receive widely varied and often non-evidenced based care. This can result in future hospital admissions for seizures, injuries, and deaths. Researchers will undertake a literature review and analysis of current management of FS patients. It will be determined if delayed assessments are associated with poorer outcomes and higher treatment costs. We will create a tool to help predict chance of seizure recurrence following a FS.
The Characterisation Of The Functional Regions Of Sarcomeric Alpha-actinins And To Determine How The Absence Of Alpha-actinin-3 Influences Human Skeletal Muscle Function And Metabolism.
Funder
National Health and Medical Research Council
Funding Amount
$95,313.00
Summary
We are studying a muscle protein called a-actinin-3. This protein is absent in approximately one billion people worldwide. A-actinin-3 is associated with athletic performance. Our goal is to explore how the absence of a-actinin-3 influences human skeletal muscle function and metabolism. We will be studying a-actinin-3 deficiency using a mouse model.
Electrophysiological And Neuroanatomical Determination Of Patients With Amyotrophic Lateral Sclerosis With The C9ORF72 Mutation
Funder
National Health and Medical Research Council
Funding Amount
$77,490.00
Summary
Motor Neuron Disease (MND) is a rapidly progressive neurological illness. A new genetic mutation C9ORF72 has recently been identified as a cause of MND. Little is known about the neurophysiological properties in these patients. We wish to better characterise the nerve function in these patients, using a new technique; 'Threshold tracking transcranial magnetic stimulation' and other existing neurophysiological techniques.
To Improve The Diagnosis Of Limb-girdle Muscular Dystrophy Using New Genetic Techniques Of DNA Sequencing Known As Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$101,991.00
Summary
Diagnosis of Limb-girdle muscular dystrophy (LMGD) is complex with only about 50% success rate. New technology, Next Generation Sequencing (NGS) can identify a diagnosis substantially quicker and cheaper than standard methods, however is only available in research. The results of this study will form a core resource that can be augmented in the future to identify rarer forms of LGMD, so that all patients can be provided with a genetic diagnosis.
Hand Splinting And Motor Training In Cerebral Palsy
Funder
National Health and Medical Research Council
Funding Amount
$80,952.00
Summary
As many as 1 in 500 children have cerebral palsy or a brain injury. 1 in 3 cannot walk, 1 in 4 cannot talk, 3 in 4 are in pain. These conditions impact on a child's ability to use their hands to touch, play, draw and explore. Hand use is the single most important factor for determining a child's long term independence into adulthood. This project explores the most effective treatment approach to enable children to use their hands to reach the goals they want to achieve and live meaningful lives.
Nerve And Muscle Excitability In Inclusion Body Myositis
Funder
National Health and Medical Research Council
Funding Amount
$81,294.00
Summary
Our study will use recently developed neurophysiological techniques to study nerve and muscle excitability in sporadic inclusion body myositis, a poorly understood progressive muscle disease for which no effective treatment is known. We will determine whether the electrical properties of nerve and muscle cell membranes are affected and obtain clues as to where this dysfunction may occur. This may aid development of effective therapies through a better understanding of disease mechanisms.