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New Computational Methods For The Analysis Of Whole-genome Data
Funder
National Health and Medical Research Council
Funding Amount
$151,516.00
Summary
A complete understanding of the mechanisms underlying common diseases can only be achieved if all pathways at which genetic variation contributes to disease risk are identified. Most available methods to identify such predisposing genetic variation are adequately powered only when analysing data for many thousands of samples. We will develop more powerful statistical methods that can increase our ability to identify disease genes from large-scale association studies.
Genetic Analysis Of Migraine And Comorbid Psychiatric Disorders Using Twin Families
Funder
National Health and Medical Research Council
Funding Amount
$554,450.00
Summary
Typical migraine, is a frequent, debilitating and painful disorder that normally affects people during their most productive years (up to 25% of females and 7.5% of males in Western populations). Additionally, several studies have demonstrated a cross-sectional relation between psychiatric disorders (namely anxiety and depression) and migraine in community samples. The World Health Organization (WHO) recently identified migraine and major depression among the world's top 20 leading causes of dis ....Typical migraine, is a frequent, debilitating and painful disorder that normally affects people during their most productive years (up to 25% of females and 7.5% of males in Western populations). Additionally, several studies have demonstrated a cross-sectional relation between psychiatric disorders (namely anxiety and depression) and migraine in community samples. The World Health Organization (WHO) recently identified migraine and major depression among the world's top 20 leading causes of disability, with an impact that extends far past the suffering individual, to the family and community. In both sexes of all ages, depression and migraine are the 1st and 19th leading causes of disability affected life years. Although both migraine and depression are highly prevalent in our society, their aetiologies remain relatively obscure and there are no laboratory based diagnostic tests that identify those who suffer from the disorders. Because so little is known about them, a positional cloning approach is the only feasible way to identify the molecular mechanisms underlying these disorders. This project will collect a sample with sufficient power to perform a genome wide linkage screen to i) identify novel susceptibility genes, and ii) confirm previously reported susceptibility genes for migraine and co-occurring psychiatric disorders. The susceptibility genes identified (and confirmed) in this sample will provide clues to the further elucidation of the complex molecular pathways of migraine (and co-occurring psychiatric disorders) and, finally, will help in the development of diagnostic tests and rational treatment strategies.Read moreRead less
Accurate Prediction Of Individual Risk To Disease From Genome-wide Association Studies
Funder
National Health and Medical Research Council
Funding Amount
$269,371.00
Summary
Risk for many complex diseases (such as psychiatric disorders or heart disease) has a substantial genetic component, however few specific high risk variants have been identified. Evidence is mounting that there are likely to be hundreds of risk loci each individually conferring a very low increase in relative risk for disease. We aim to develop methods that utilise information from multiple genetic risk variants simultaneously to create a 'genomic profile' of risk.
Finding The Genetic Causes Of Asthma: The Australian Asthma Genetics Consortium (AAGC)
Funder
National Health and Medical Research Council
Funding Amount
$1,697,639.00
Summary
Asthma is a major burden on individuals and health systems. Despite many decades of research, no major effective new treatments for asthma have emerged recently. We will establish a large international consortium to systematically test nearly all known human genes to identify those that influence asthma susceptibility. We expect to identify pathways not previously implicated in asthma and so lead to a potential breakthrough in the development of more effective treatments.
Genetic Variation Of Mitochondrial Complex I: Its Role In Rare And Common Diseases
Funder
National Health and Medical Research Council
Funding Amount
$628,415.00
Summary
Our bodies convert food into energy in tiny cellular power plants called mitochondria. Each year about 50 Australian children inherit disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause degenerative diseases in later life, particularly affecting brain and muscle. In most cases we lack effective treatments. The genetic causes of mitochondrial disorders are incredibly diverse, with over 70 disease genes known. Some are located on the uniqu ....Our bodies convert food into energy in tiny cellular power plants called mitochondria. Each year about 50 Australian children inherit disorders of mitochondrial energy generation. The most severe disorders cause infant death, while others cause degenerative diseases in later life, particularly affecting brain and muscle. In most cases we lack effective treatments. The genetic causes of mitochondrial disorders are incredibly diverse, with over 70 disease genes known. Some are located on the unique mitochondrial DNA we inherit only from our mothers. Many more genes await discovery. This grant focuses on the most common energy generation disorder, known as Complex I deficiency. Complex I requires 46 separate components to be assembled together in order to work properly, but mutations in the 46 genes encoding these components only seem to explain disease in about half of all patients. Our aim is to identify new disease genes and to determine whether some patients have mutations in two different genes that interact to cause disease, rather than in a single gene. We will use a number of methods to pinpoint where in the genome the causative genes are located and then home in on the exact changes in the genes that cause disease. Identifying these genes will allow us to improve future diagnosis and prevention of mitochondrial disease. We will also generate mice in which one of the Complex I genes has been knocked out. These mice will allow us to better understand the basic disease mechanisms that link gene changes to disease. Understanding the basic biology may allow us to develop new methods of treatment. The mouse models will also be useful for trialling new treatments and for investigating the role of milder mitochondrial problems in common diseases such as diabetes and Parkinson disease. Any new treatments could potentially have wide application.Read moreRead less
Comprehensive Assessment Of Genetic And Environmental Risk Factors For Melanoma: A Population-based Family Study
Funder
National Health and Medical Research Council
Funding Amount
$150,679.00
Summary
Excessive sunlight can cause melanoma, a serious type of skin cancer. However, there are other factors including a person's genetic make-up that are thought to put some people at higher risk. Many 'healthy' people have small changes in their genes that might make them more likely to develop melanoma. We need to know more about these genetic factors. Our study will investigate how particular small genetic changes influence a person's likelihood of developing melanoma.
Identifying Modifiers For Plasmacytoma Susceptibility
Funder
National Health and Medical Research Council
Funding Amount
$265,500.00
Summary
Many oncogenes and tumour suppressor genes have been identified. Activation or deletion of these genes can have profound effects on the control of cell growth and result in tumours. Many tumour suppressor genes give carriers an elevated risk of disease. However in many cases the incidence of these mutations causing cancer is much lower than would be expected, due to other influencing factors. This project aims to try and understand the reasons behind this in a mouse model of cancer, plasmacytoma ....Many oncogenes and tumour suppressor genes have been identified. Activation or deletion of these genes can have profound effects on the control of cell growth and result in tumours. Many tumour suppressor genes give carriers an elevated risk of disease. However in many cases the incidence of these mutations causing cancer is much lower than would be expected, due to other influencing factors. This project aims to try and understand the reasons behind this in a mouse model of cancer, plasmacytomas. Modifers of tumour incidence are proposed for human disease but very little is known about the identity of the genes involved or in the biological pathways regulating tumour incidence. The search for these genes in humans is difficult. We have begun studies to find modifiers of tumourigenesis using the E -v-abl transgenic model of plasmacytomas. This is the mouse equivalent of multiple myeloma. Studies have shown that some strains of mice have markedly different incidences of tumours. C57BL-6 animals are less susceptible with 20% of animals developing tumour by 12 months of age. In contrast, 90% of transgenic animals on the BALB-c background develop tumour by 12 months of age. There is also a significant sex difference with males being more susceptible than females. There is a similar difference in susceptibility in humans to multiple myeloma.Read moreRead less
Australian Genomewide Association Study In Osteoporosis
Funder
National Health and Medical Research Council
Funding Amount
$882,722.00
Summary
Osteoporosis is a common condition in which bone strength is reduced due to reduced amount and quality of bone. Reduced bone strength means an increased risk of fracture. Osteoporotic fractures occur in 1 in 2 women and 1 in 3 men in their lifetime, and the likelihood of suffering osteoporotic fracture increases with age. Most of the risk of developing osteoporosis is genetic, but few of the genes involved have been identified. Our goal is to identify those genes.
A Genome Wide Association Study For Alcohol And Nicotine Addiction Susceptibility Genes
Funder
National Health and Medical Research Council
Funding Amount
$872,816.00
Summary
Alcohol and nicotine addiction are major public health problems within Australia. As well as the personal and economic costs associated with dependence, there is a wide range of downstream health effects from heavy drinking and smoking. This is a proposal for a genome wide association study to systematically screen and identify genetic variants within the Australian population that affects an individual's liability to developing alcohol addiction, nicotine addiction or both.
Genetic Control Of Susceptibility To Autoimmune Gastritis
Funder
National Health and Medical Research Council
Funding Amount
$346,945.00
Summary
Autoimmune gastritis is caused by the immune system targeting and destroying the stomach lining. We have developed a mouse model of the causes of gastritis and mapped the two major genes that can control susceptibility. This project involves the final stages of identifying these genes and determining how they cause disease.