Genetics Of DNA Methylation And Its Role In Disease Susecptibility
Funder
National Health and Medical Research Council
Funding Amount
$428,065.00
Summary
DNA methylation is a chemical modification to DNA that sits on the interface of an individual's genetics and environment, which is critical for regulating many cellular processes. There is increasing evidence for a major role of variation in DNA methylation in development of disease and it provides a potential therapeutic target. This research will fill fundamental gaps in our knowledge of the genetic and environmental control of differences in levels of DNA methylation in the population.
A Genome-wide Association Study In 2000 Glaucoma Cases With Matched Controls Using Equimoloar DNA Pools
Funder
National Health and Medical Research Council
Funding Amount
$610,267.00
Summary
Glaucoma is a common cause of loss of vision worldwide but we are unable to predict which people are at high risk of blindness. We aim to discover the genetic risk factors for glaucoma. We will use cutting edge genetic technology to assess the whole genome in thousands of patients with glaucoma. We hope to identify important new glaucoma genes, which could lead to the development of diagnostic tests and treatments which will provide the most cost-efficient ways to prevent glaucoma blindness.
Understanding The Pathogenesis, Phenotypic Variation And Risk Prediction Of Childhood Asthma Using Computational Approaches
Funder
National Health and Medical Research Council
Funding Amount
$122,714.00
Summary
Asthma is a common respiratory illness in Australia. It is important to be able to predict who gets asthma, because those who get early treatment tend to fare better. We plan to run complex tests on data collected from hundreds of Australian children. The collected data includes genetic variations, chest infections, and differences in immune responses. From this data we hope to achieve a better understanding of the driving forces behind asthma, and to make better predictions for those at risk.
Optic Nerve Head Structure And Genetic/environmental Associations: A Population-based SD-OCT Study
Funder
National Health and Medical Research Council
Funding Amount
$320,891.00
Summary
My research project combines two powerful new technologies, spectral domain-optical coherence tomography and the genome-wide association study, to investigate the physical and genetic characteristics of the optic nerve head in humans. Results from this work will help identify new glaucoma risk genes, increasing sensitivity and specificity for predicting glaucoma and expand our understanding of the disease mechanism allowing for the development of new treatments.
Using cutting edge sequencing and genotyping technology, genes causing common and rare human diseases will be identified, and genetic methods developed to diagnose genetic diseases in both antenatal and postnatal life. Treatments for common rheumatic diseases affecting tens of thousands of Australians will be developed informed by these genetic findings.
Novel Ways Of Utilizing Genome-wide DNA Methylation Data From Peripheral Blood Samples In Genetic Epidemiology
Funder
National Health and Medical Research Council
Funding Amount
$285,186.00
Summary
The aim of this project is to develop statistical methods and paradigms to better leverage the considerable amount of peripheral blood DNA methylation data that has been collected from large scale epidemiological studies. In particular, our focus is on developing and optimizing statistical methods of using DNA methylation profiles to “tag” environmental exposures, so that this information can be better utilized to investigate the genetic and environmental basis of complex traits and diseases.
Control Of Genome Regulation And Its Role In Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$419,180.00
Summary
Changes in DNA can lead to differences in susceptibility to developing many diseases. The most common mechanism by which this occurs is through changing when and in which tissues disease-relevant genes get translated into proteins. My research focuses on understanding how DNA changes result in altered gene expression and how this can affect disease susceptibility. This work requires the use of high performance computing and statistical analysis of large genome-scale datasets.