Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from af ....Glaucoma is the second leading cause of blindness in the world affecting approximately 70 million people. Glaucoma can occur at any age but the commonest type occurs in middle to old age. The disease has a genetic basis and can be inherited. As a result we have been studying the genetics of the disease in two large families from Tasmania. We hope to identify the genes involved in disease causation using a number of genetic techniques. Once mutations in a disease gene have been identified from affected individuals we will then be in a position to look for mutations in other family members and identify those individuals at risk of developing disease. Improvements in our understanding of how these genes are involved in disease causation will allow us to offer diagnostic testing to the wider community and develop better therapeutic interventions for treatment.Read moreRead less
Identifying Target Genes For Novel Anti-epileptic Therapies In The Mouse
Funder
National Health and Medical Research Council
Funding Amount
$469,802.00
Summary
Epilepsy is a disease which affects 2-4% of the population. There are a wide range of drugs available to treat the condition but there is consistently 30-40% of patients who do not respond well to any of these drugs and who continue to have seizures. The reason that there are no drugs available for these people is that most of the drugs available have been designed along the same principles. A new set of principles is needed to develop new drugs which will be able to treat those people not respo ....Epilepsy is a disease which affects 2-4% of the population. There are a wide range of drugs available to treat the condition but there is consistently 30-40% of patients who do not respond well to any of these drugs and who continue to have seizures. The reason that there are no drugs available for these people is that most of the drugs available have been designed along the same principles. A new set of principles is needed to develop new drugs which will be able to treat those people not responding to current therapy. This project is designed to identify new biologic pathways which may be interrupted with drugs to prevent seizures in people with epilepsy. This project uses a procedure to induce mutations into genes in mice and then screens for mice which do not seize when challenged with a drug which generates seizures in mice. Genetic studies will identify the mutated genes and these will be used as potential targets for new therapies or will identify new biological pathway which should expand the use of future anti-epileptic drugs.Read moreRead less
Estimation of non-additive genetic variance for complex traits using genome-wide single nucleotide polymorphyisms and sequence data. Finding genes for traits of importance in agriculture, ecology and human health depends on understanding the genetic basis of these traits. This project will investigate whether variation in traits in humans, cattle and wild sheep are influenced by gene-gene interactions.
The genetic architecture and evolution of quantitative traits. Most important traits are controlled by many genes and by the environment, however there is little knowledge of how many genes are involved in these complex traits and what their effects are. This project will describe the number of genes and their effects for complex traits in humans and livestock and explain how these genes evolve.
Exposing the complex and flexible genetic basis to polygenic adaptation: integrating population and quantitative genomic approaches. Using leading-edge genomic approaches, the project will dissect the genetic basis to adaptation across an entire species range. The results will highlight the complex nature of adaptation to environmental change and will deliver new approaches to study it in natural populations.
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.
Developing methods for the analysis of massively parallel sequencing data in family studies. This project will develop analytical methods to use the latest, high-throughput method of generating sequencing data, i.e. the letters of the human genome alphabet. These tools will be used to identify the causal mutations in families with inherited disorders, leading to diagnostic tests for these families.
The extent, causes and implications of pleiotropy among complex traits. The project seeks to understand how a DNA mutation can affect many characters or traits. Many traits are called complex because they are controlled by a very large number of genes, most of which have small effects. Complex traits include traits important in medicine (such as susceptibility to heart disease) and in agriculture (such as tenderness of meat). Because there are many genes affecting each trait, most genes have sma ....The extent, causes and implications of pleiotropy among complex traits. The project seeks to understand how a DNA mutation can affect many characters or traits. Many traits are called complex because they are controlled by a very large number of genes, most of which have small effects. Complex traits include traits important in medicine (such as susceptibility to heart disease) and in agriculture (such as tenderness of meat). Because there are many genes affecting each trait, most genes have small effects which makes them hard to identify. The fact that a mutation that has a small effect on a complex trait also has a larger effect on a less complex trait may help us to identify the mutation and use it in agriculture or medicine.Read moreRead less
DNA methylation in insect social evolution. This project will investigate the evolutionary relationship between DNA methylation and the advanced sociality displayed by bees, ants and wasps. The project will map DNA methylation across the social insects and test whether it has coevolved with sociality. It will also determine how a vital social cue, the queen pheromone, influences the worker methylome. Finally, it will apply quantitative genetic and methylomic methods to wild insects, revealing pa ....DNA methylation in insect social evolution. This project will investigate the evolutionary relationship between DNA methylation and the advanced sociality displayed by bees, ants and wasps. The project will map DNA methylation across the social insects and test whether it has coevolved with sociality. It will also determine how a vital social cue, the queen pheromone, influences the worker methylome. Finally, it will apply quantitative genetic and methylomic methods to wild insects, revealing patterns of selection and inheritance in epigenetic and phenotypic traits. By combining genomic and evolutionary methods, the project will advance the ongoing debate about the importance of methylation to sociality and extreme phenotypic plasticity. It will contribute to a quantum leap in our understanding of DNA methylation and sociobiology and mark the first application of quantitative genetics to wild insects.Read moreRead less
The genetic basis of singing ability. This project aims to explore the heritability of music ability, focusing on singing and the contribution of genetic and environmental influences. Research suggests that deliberate practice (more than 10,000 hours) produces skilled musicianship, with minimal investigation of genetic influences. Mapping the human genome has opened up a new scientific frontier, and this project’s findings are expected to lead to the discovery of genes for singing. This will hel ....The genetic basis of singing ability. This project aims to explore the heritability of music ability, focusing on singing and the contribution of genetic and environmental influences. Research suggests that deliberate practice (more than 10,000 hours) produces skilled musicianship, with minimal investigation of genetic influences. Mapping the human genome has opened up a new scientific frontier, and this project’s findings are expected to lead to the discovery of genes for singing. This will help design and deliver music education programmes that take individual differences into account, differentiating between heritable aspects of musicianship and those more influenced by training.Read moreRead less