Non-Alzheimer’s Disease Degenerative Dementias: Identifying Prodromal Genetic/familial Phenotypes, Modifying Factors, And Protein Variations Involved In Progression
Funder
National Health and Medical Research Council
Funding Amount
$6,449,246.00
Summary
This proposal will generate new knowledge necessary for advancing the diagnosis of the non-Alzheimer’s disease dementias. We will identify the preclinical forms of frontotemporal dementia and Lewy body dementia using similar methods to those successfully employed to advance diagnosis of Alzheimer’s disease. Importantly, our team has the capacity to translate these protocols into clinical practice and into further advances in biological knowledge that is necessary for future therapeutic targeting
Discovery Of Novel Neurodegeneration Genes Via Next-generation Sequencing Technologies And High-throughput Cellular Assays
Funder
National Health and Medical Research Council
Funding Amount
$715,144.00
Summary
My research program aims to discover genes that are mutated in dementia, by identifying gene variants present in patients and absent in healthy people, and examining how these variants affect the function of cells. Identifying new dementia genes will reveal the biological processes that lead to brain cell death. Knowledge of these processes is crucial for the development of new treatments for the many people affected worldwide with dementia.
Cellular Effects Of Glucocerebrosidase (GBA) Mutations In Lewy Body Diseases
Funder
National Health and Medical Research Council
Funding Amount
$524,820.00
Summary
Approximately 1 in 100 people are carriers of mutations in the glucocerebrosidase (GBA) gene and are at considerably greater risk of diseases characterised clinically by parkinsonism and by the presence of Lewy body-related pathology. This study will provide tissue-based evidence of the cellular lipid and protein changes relating to Lewy body formation in patients with GBA mutations, providing the information necessary to identify the pathways and mechanisms involved.
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.