Identification Of Glaucoma Susceptibility Variants By Exome Sequencing In Extended Pedigrees Showing Prior Evidence Of Gene Segregation.
Funder
National Health and Medical Research Council
Funding Amount
$694,002.00
Summary
Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for tr ....Primary open angle glaucoma is a chronic eye disease and one of the leading causes of visual impairment and blindness worldwide. This study will use cutting-edge genetic methods to look at the entire coding component of the human genome (exome) in 271 individuals from large glaucoma families. Our previous studies have shown that these families carry genetic variants that increase disease risk. In this investigation we aim to identify these genes, with the hope they may offer novel targets for treatment or diagnosis.Read moreRead less
Identifying Rare Genetic Variants Conferring Susceptibility To Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$293,898.00
Summary
Recently there has been success in identifying common genetic variants that confer susceptibility to multiple sclerosis. The variants that have been discovered so far have modest effects on risk of disease, and only explain a small proportion of familial aggregation of disease. In this study we aim to identify rarer genetic variants that have stronger effects on risk of disease, using new statistical methods and new methods to sequence very large amounts of DNA.
Epigenetic Biomarker Discovery For Cardiovascular Disease Risk Stratification Of Women Following Preeclampsia
Funder
National Health and Medical Research Council
Funding Amount
$1,275,101.00
Summary
Those women whom have suffered from severe complications during pregnancy have an increased risk of developing heart disease. This increased risk may be due to epigenetic changes during pregnancy that alter the expression of specific genes. These epigenetic changes persist after birth and increase heart disease risk for these women. This project seeks to evaluate those epigenetic changes associated with severe pregnancy complications predicting heart disease in a large group of Australian women.