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.
Fine Mapping Of Genes Underlying Asthma And Eosinophilia
Funder
National Health and Medical Research Council
Funding Amount
$278,000.00
Summary
Asthma is the fourth most common chronic disease in Australia, and is increasing in incidence. Genetic factors are known to be important modifiers of disease risk, and several genes have been reported in the literature as being involved in either causing asthma or altering response to therapy. Immunoglobulin E (IgE) level and eosinophil count are two factors known to be increased in the blood of asthmatics. In two studies by our group, one of asthma in families, the other of healthy adolescent t ....Asthma is the fourth most common chronic disease in Australia, and is increasing in incidence. Genetic factors are known to be important modifiers of disease risk, and several genes have been reported in the literature as being involved in either causing asthma or altering response to therapy. Immunoglobulin E (IgE) level and eosinophil count are two factors known to be increased in the blood of asthmatics. In two studies by our group, one of asthma in families, the other of healthy adolescent twins, we showed these measures to be genetically linked to two different regions in the genome. Closer examination of these regions found several genes that might be responsible for the linkage. In the present study, we plan to test which of these candidate genes actually causes elevated IgE level or eosinophil count. The approach is to compare the frequency of a putative gene in a child expressing that phenotype to that in their parents. Each child receives one copy of a gene from the father, and one from the mother, making up a complete genotype (two possibly different versions or alleles of the gene). Since each parent transmitted only one allele to the child, the remaining allele from each parent can be used to create a normal control genotype, that is guaranteed to come from the same ethnic background as the asthmatic child. Therefore, we will collect replacement blood samples in those familes where all the previously DNA has been used up in our earlier study. We will extract DNA, and measure the genotypes of parents and children at the 6 genes in our two regions that we think most likely to be involved in eosinophil count or IgE level. This family based test will allow us to decide which genes are genuinely associated with asthma in our population. We will also test if these genes interact with other genes thought to be asthma risk factors. Identification of novel genes involved in asthma will help understand and ultimately treat this condition.Read moreRead less
Identification Of Novel Low Penetrance Genes Associated With Melanoma Risk
Funder
National Health and Medical Research Council
Funding Amount
$399,830.00
Summary
Using pools of DNA samples we will conduct a genome-wide association study for melanoma predisposition genes. The most promising candidate genes will be followed up by sequencing and further geneotyping of additional SNPs in order to identify the causal variants.
A Genome-wide Association Study Of Endometrial Cancer
Funder
National Health and Medical Research Council
Funding Amount
$1,066,328.00
Summary
Endometrial cancer (uterine-womb cancer) is the most common invasive gynaecological cancer in Australia. Each year more than 1400 women are affected by the condition. The non-biased approach of our large study will identify genes that increase risk of this cancer, to provide information for future targeted therapies to prevent progression, and large-scale studies investigating how these genes interact with environmental factors such as hormone replacement therapy and obesity to cause disease.
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.
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.