Uncovering The Aetiology Of Myopia Through Identification Of Refraction And Ocular Biometric Genes
Funder
National Health and Medical Research Council
Funding Amount
$697,786.00
Summary
Myopia or short-sightedness affects 1 in 4 people in the Western world and is a major source of uncorrected vision loss, as well as blindness. This proposal aims to identify genes in myopia using a new technique called genome wide association. We will apply this technique to individuals collected through a population based Eye study to allow us to identify these genes. The outcomes of this work will allow us to identify high risk individuals as well as develop new measures to prevent myopia.
Investigation Of The Role Of Specific Mucous Associated Bacteria In Children And Young Adults With Crohns Disease
Funder
National Health and Medical Research Council
Funding Amount
$431,764.00
Summary
The role of bacteria in Crohn's disease is well accepted however to date no conclusive agents have been identified. Recent animal studies have implicated mucus-associated bacteria. We have recently shown that such bacteria, the Helicobacteriaceae, are present in humans and children with Crohn's disease. The aim of this project is to determine in children and young adults the role of these bacteria in IBD thus providing information that could be used to design improved therapies for IBD.
High Resolution Mapping Of Genomic Regions Implicated In Migraine
Funder
National Health and Medical Research Council
Funding Amount
$392,545.00
Summary
Migraine is a frequent, debilitating and painful disorder that affects a significant proportion of the population. Using the diagnostic criteria of the international Headache Society, the prevalence of migraine has been estimated to be approximately 12%, with a recent study in the United States showing that migraine affects 4% of children, 6% of men and 18% of women. The aetiology of migraine is unknown and there are no laboratory based diagnostic tests to identify those who suffer from the diso ....Migraine is a frequent, debilitating and painful disorder that affects a significant proportion of the population. Using the diagnostic criteria of the international Headache Society, the prevalence of migraine has been estimated to be approximately 12%, with a recent study in the United States showing that migraine affects 4% of children, 6% of men and 18% of women. The aetiology of migraine is unknown and there are no laboratory based diagnostic tests to identify those who suffer from the disorder. Clinical diagnosis is currently based on patient symptom descriptions, with individual symptoms being shown to vary with age. Migraine is believed to have a genetic basis with specific environmental factors, such as particular foods, hormonal levels and fatigue, being capable of inducing attacks in predisposed individuals. Migraine shows strong familial aggregation with about 50% of those affected, having another close relative also affected with the disorder. At present the number of genes involved in the disorder is unknown and have not been identified. Recent studies in our laboratory have localised two migraine genes, one to chromosome 19 and the other to the X chromosome. More recently we have also found evidence for a third gene on chromosome 1. This study is aimed at fine scale mapping analysis of these three chromosomal regions in order to pinpoint the location of migraine genes. Our ultimate aim is to identify the molecular causes of this disorder. This would have important implications to both the diagnosis and treatment of migraine.Read moreRead less
New Dopaminergic Neurons In The Parkinson's Disease Striatum: Establishment Of Phenotype, Function And Origin.
Funder
National Health and Medical Research Council
Funding Amount
$156,493.00
Summary
Parkinson s disease is usually associated with loss of dopamine cells that send nerves from the substantia nigra to the striatum. However, we have found large numbers of apparently new dopaminergic cells in post mortem tissue from the striatum of 10 patients with Parkinson s disease but not in 5 age-matched controls. Our aims are firstly to determine whether these cells are indeed dopaminergic neurons by establishing their neurochemical and morphological profiles. This is required to determine w ....Parkinson s disease is usually associated with loss of dopamine cells that send nerves from the substantia nigra to the striatum. However, we have found large numbers of apparently new dopaminergic cells in post mortem tissue from the striatum of 10 patients with Parkinson s disease but not in 5 age-matched controls. Our aims are firstly to determine whether these cells are indeed dopaminergic neurons by establishing their neurochemical and morphological profiles. This is required to determine whether these apparently dopaminergic cells do indeed produce the neurotransmitter dopamine and to determine to what class of neuron they belong. The latter is important to establish whether they act locally in the striatum or extend their influence over a larger area of the brain. Secondly we shall assess their function in human and rat tissue. We shall determine whether their number is related to the severity of damage in Parkinson s disease, or whether L-DOPA therapy, which most patients receive, plays any role in their appearance. These experiments will lay the ground work to allow us to determine whether these cells are beneficial or harmful. Lastly, we shall determine where these cells come from. We shall determine whether they have always been present but have taken on a new function, or whether they are in fact new cells which have been born recently. This knowledge is essential if we are to be able to change their numbers to improve treatment of Parkinson s disease. We estimate that there are up to 66,000 of these dopaminergic cells in each striatum of patients with Parkinson s disease. This is enough to have a significant impact on the manifestation of the disease. These cells might be beneficial, allowing the brain to maintain essential functions for longer or they might be harmful playing a role in either development of Parkinson s disease itself or the harmful side effects of L-DOPA therapy.Read moreRead less
A Longitudinal Study To Determine Aetiology Of The Condition Known As Breast Thrush In Lactating Women
Funder
National Health and Medical Research Council
Funding Amount
$775,147.00
Summary
This project looks at 2 common breast problems in breastfeeding women: breast thrush and mastitis (bacterial infection). Some health professionals believe breast thrush is caused by Candida albicans (thrush) while others believe it is caused by the bacteria Staphylococcus aureus (golden staph). This study will follow a group of women to determine if S. aureus or C. albicans is the cause of breast thrush and to describe the transmission of these organisms between mother and baby .
Cholinergic Abnormalities In Alzheimer's Disease: Identification Of Novel Therapeutic Targets
Funder
National Health and Medical Research Council
Funding Amount
$478,500.00
Summary
The aim of this project is to develop new drugs for the treatment of Alzheimer's disease. Alzheimer's disease is a disease of ageing commonly associated with memory loss. The disease is caused by the build up of amyloid protein in the brain. However, it is not known how amyloid protein causes degeneration of normal brain function. Our previous studies have shown that amyloid protein targets two components which are important for normal brain function. These components are 1) acetylcholinesterase ....The aim of this project is to develop new drugs for the treatment of Alzheimer's disease. Alzheimer's disease is a disease of ageing commonly associated with memory loss. The disease is caused by the build up of amyloid protein in the brain. However, it is not known how amyloid protein causes degeneration of normal brain function. Our previous studies have shown that amyloid protein targets two components which are important for normal brain function. These components are 1) acetylcholinesterase and 2) nicotinic receptors, which are known to be important for memory. The aim of this application is to identify the mechanisms by which amyloid protein targets acetylcholinesterase and nicotinic receptors and to design inhibitors of this interaction which may ultimately provide a platform for future drug development.Read moreRead less
Can Skin Infection With Group A Streptococcus Cause Acute Rheumatic Fever?
Funder
National Health and Medical Research Council
Funding Amount
$459,450.00
Summary
It is traditionally taught that the cause of acute rheumatic fever (ARF) is always infection of the throat with the bacterium group A streptococcus (GAS). However, in Aboriginal communities of the Top End of the Northern Territory the incidence of ARF is the highest reported in the world, yet GAS is uncommonly isolated from the throat. There is further information to suggest that GAS skin sores may underlie many cases of ARF. If this were proven, it would completely alter the traditional view of ....It is traditionally taught that the cause of acute rheumatic fever (ARF) is always infection of the throat with the bacterium group A streptococcus (GAS). However, in Aboriginal communities of the Top End of the Northern Territory the incidence of ARF is the highest reported in the world, yet GAS is uncommonly isolated from the throat. There is further information to suggest that GAS skin sores may underlie many cases of ARF. If this were proven, it would completely alter the traditional view of the cause of ARF, and have important implications for prevention of ARF around the world. Presently, these approaches focus on diagnosing and treating sore throat, but no country has proven that such a program can be successful in substantially reducing new cases of ARF. If it was known that skin infection could lead to ARF, then countries (including Australia) could emphasise the importance of skin health programs. A further benefit of this knowledge would be to influence GAS vaccine development, which presently is largely focused on the prevention of sore throat. A different possibility has recently been raised - that the cause of ARF may not always be GAS, but instead that the related bacteria GCS and GGS may have the potential to cause this disease. Proof of this hypothesis would even more dramatically alter our understanding of disease causation, prevention, and vaccine development. We propose to determine the cause of ARF in Aboriginal communities by regularly swabbing families of people with a history of ARF, and using genetic fingerprinting of the bacteria from the skin and throat swabs. When cases of ARF occur, we will be able to determine the site and type of infection that precipitated the attack. We will conduct a related study in more communities, in which we will swab family members of people with ARF and of control families (without ARF) to determine the bacteria most commonly isolated from ARF families.Read moreRead less
A New Virus Causing Acute Gastroenteritis In Humans
Funder
National Health and Medical Research Council
Funding Amount
$575,374.00
Summary
Diarrhoea is very common, especially in children but a cause is often not found. Believing there must be undiscovered viruses responsible, we developed a new method to look for them, and discovered one, which we have named adelavirus, in 17% of children with diarrhoea presenting to the WCH, Adelaide, over a 3 month period. 55% were hospitalised. This project proposes to investigate how widespread adelavirus infection is in the community and investigate how a vaccine might be developed.
Identifying EQTLs And Endophenotyping Known CNVs In A Large Australian Schizophrenia Sample
Funder
National Health and Medical Research Council
Funding Amount
$902,472.00
Summary
This study hopes to identify genetic code variations associated with an increased risk of schizophrenia . We will study variation in gene expression levels in patients and healthy controls to identify underlying changes in the genetic code responsible. In a subset of patients with schizophrenia and known rare copy number variations (CNVs) in the genetic code we will conduct brain scans and psychological tests to characterize the effect of CNVs on brain structure and function in schizophrenia.