How The Environment And Epigenetics Affect The Brain Disease Gene, MAPT.
Funder
National Health and Medical Research Council
Summary
Genetic variants in the microtubule associated protein Tau (MAPT) gene are major risk factors for Alzheimer’s disease and Parkinson’s disease. Environmental or lifestyle factors, such as diet and smoking, have crucial roles in changing the risk of developing these diseases. These environmental factors may exert their influence via a mechanism known as "epigenetics". This project aims to determine whether the MAPT gene is susceptible to epigenetic changes by environmental factors, and whether thi ....Genetic variants in the microtubule associated protein Tau (MAPT) gene are major risk factors for Alzheimer’s disease and Parkinson’s disease. Environmental or lifestyle factors, such as diet and smoking, have crucial roles in changing the risk of developing these diseases. These environmental factors may exert their influence via a mechanism known as "epigenetics". This project aims to determine whether the MAPT gene is susceptible to epigenetic changes by environmental factors, and whether this process will have an impact on these diseases.Read moreRead less
Defining The Changes In Cell Biology Caused By PRESENILIN Truncations Associated With Different Diseases
Funder
National Health and Medical Research Council
Funding Amount
$622,886.00
Summary
Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be requir ....Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be required for the development of treatments.Read moreRead less
Human Olfactory Neurosphere-derived Cells: A Novel Cellular Model For Parkinson's Disease.
Funder
National Health and Medical Research Council
Funding Amount
$365,126.00
Summary
ParkinsonÍs disease (PD) is an incurable, brain disease that affects 75,000 Australians with great societal cost. We are working on adult stem cells called (hONS) grown from peopleÍs olfactory mucosa (in the nose) as a research tool to study PD. Our project examines differences seen in hONS from people with PD and determines how certain cellular processes impact on the function of these cells. This work will enhance our understanding of the biology of PD and identify new targets for therapies.
Functional Analysis Of Recently Identified Novel Glaucoma Genes.
Funder
National Health and Medical Research Council
Funding Amount
$519,918.00
Summary
Glaucoma is the commonest cause of irreversible blindness in the world. Recently, through genetic studies in cohorts of blinding glaucoma cases from Australia, our group has found that variants in two genes increase the risk of blinding glaucoma. This project will investigate how these genes contribute to pathological changes in the optic nerve and retina, at the back of the eye, that lead to glaucoma. This knowledge will be useful for developing new strategies to treat glaucoma.
New High Thoughput Animal Models To Investigate Amyloid Beta Toxicity
Funder
National Health and Medical Research Council
Funding Amount
$402,223.00
Summary
Amyloid-beta is widely considered to cause Alzheimer’s disease. The majority of amyloid-beta in Alzheimer's disease brains is found as shortened forms. The role of these shortened forms is uncertain and are not being tested in current animal models. We propose to develop new models to determine and compare their respective toxic effects, and to use these new models to help identify drugs to treat Alzheimer's disease.
Defining The Central Role Of Podocyte Depletion In The Development, Progression And Management Of Glomerular Disease
Funder
National Health and Medical Research Council
Funding Amount
$690,855.00
Summary
Podocytes are key cellular components of the kidney’s filtration barrier. Podocyte depletion (cell loss or injury) is a key event in most forms of kidney disease. We will investigate interactions between podocyte depletion and two major risk factors for kidney disease (diabetes and hypertension), assess whether podocyte depletion influences therapeutic outcomes, and commence efforts to develop podocyte-specific therapies.
Early Diagnosis And Prognosis Of Severe Dengue In Vietnamese Children
Funder
National Health and Medical Research Council
Funding Amount
$689,323.00
Summary
Dengue is a mosquito-borne viral infection. Tropical Australia has experienced multiple outbreaks of dengue in the last decade. This project, conducted in Ho Chi Minh City, Viet Nam, will define the accuracy of a rapid diagnostic test for the early diagnosis of severe dengue. In doing so, we will also derive an algorithm using simple laboratory and clinical findings that can help identify those patients at greatest risk of severe complications, with benefits for both patients and hospitals.
Graves’ disease is the most common cause of hyperthyroidism. It leads to long-term impairments in quality of life and has a 40% higher mortality rate compared with the general population. We know surprisingly little about the causes of Graves’ disease. One possible trigger is stressful life events; however, the relationship is yet to be proven. This study will assess whether stressful life events, specifically military deployment, are associated with Graves’ disease.
Development Of Serum Models That Can Predict Clinical Outcomes In Chronic Liver Disease
Funder
National Health and Medical Research Council
Funding Amount
$380,694.00
Summary
The overall objective of this project is to develop blood tests that can accurately predict liver related death, liver cancer and liver decompensation respectively for patients with chronic liver disease. Blood tests will also be developed to predict cardiovascular disease in patients with non-alcoholic fatty liver disease. Furthermore, we will evaluate the use of repeated blood tests to assess if this can more accurately predict death and complications compared to a single time point.
Nodal Function In Peripheral Neuroinflammatory Disorders: Target Antigens, Functional Significance And Treatment Response
Funder
National Health and Medical Research Council
Funding Amount
$605,172.00
Summary
Inflammatory neuropathies are autoimmune disorders which produce severe disability and represent a costly burden to the healthcare system, but the causes remain unknown. Recent evidence from our team suggests that antibodies against parts of the peripheral nerve at the node of Ranvier are involved. The project aims to identify these specific targets and monitor treatment responsiveness, stabilise nerve function and prevent persistent disability.