PYROXD1 - A Novel Myopathy Disease Gene Identifies A Redox Pathway Essential For Life
Funder
National Health and Medical Research Council
Funding Amount
$1,247,992.00
Summary
An Australian family with a rare myopathy has led to the discovery of a new gene called PYROXD1; a gene that all cells need to survive. PYROXD1 plays a critical role in protecting cells from oxidative stress. We are using patient samples and mouse models to find out what PYROXD1 does that is vital for cell and animal life. We will test whether redox therapies developed for neurodegenerative disorders might help patients with rare neuromuscular disorders, for whom there are no treatment options.
Improving Outcomes For Individuals And Families Affected By Genetic Disease.
Funder
National Health and Medical Research Council
Funding Amount
$838,845.00
Summary
I aim to reduce illness and death caused by inherited diseases, particularly in unborn children, newborns and infants. I will do this by finding causes of inherited diseases we don’t yet know, investigating treatments for inherited diseases and developing better methods of diagnosing inherited diseases. I will also investigate methods of finding carriers of recessive diseases before they have affected children, so that they can avoid having children affected with severe diseases.
While there are numerous therapies for relapsing-remitting multiple sclerosis (MS), therapy for progressive MS remains elusive. This project will evaluate the effect of various therapies on the accumulation of irreversible disability in progressive MS. In addition, it will examine the effect of switching between therapies on MS activity. Finally, the project will indicate whether demographic and clinical information can be used as a predictor of individual patient response to MS therapies.
Multiple sclerosis is the most common cause of neurological disability among young adults. The patients’ individual response to therapy is highly variable. The research vision completed during this Fellowship will generate novel evidence enabling individually-tailored therapy of multiple sclerosis. Through the newly established Clinical Outomes Research Unit at the Royal Melbourne Hospital, the expertise from observational data in multiple sclerosis will be applied in other areas of neurology.
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.
STOP-AUST: The Spot Sign And Tranexamic Acid On Preventing Intracerebral Haemorrhage Growth – AUStralasia Trial
Funder
National Health and Medical Research Council
Funding Amount
$764,621.00
Summary
The STOP-AUST study is a randomized controlled trial with the aim of testing whether the medication tranexamic acid when given early within 4.5 hours of symptom onset is superior to standard care alone in stopping intracerebral haemorrhage (ICH, a bleeding into the brain) growth. Total 100 to 150 patients will be enrolled into the study.
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.
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.