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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.
New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.
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.
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.
Development Of A Bioinformatic Tool For The Rapid Identification Of Candidate Disease Genes
Funder
National Health and Medical Research Council
Funding Amount
$436,367.00
Summary
Candidate disease gene prediction systems assist geneticists by using biological data to suggest genes likely to be causative of diseases in regions of the genome delineated by genetic studies. This area has been enabled by completion of the Human Genome Project and increased availability of high-throughput experimental data and sophisticated bioinformatic tools. Identification of disease genes will contribute to an understanding of disease, as well as its prevention, diagnosis, and treatment.
Gene Identification For Keratoconus - A Blinding Eye Disease
Funder
National Health and Medical Research Council
Funding Amount
$912,880.00
Summary
Keratoconus is a common eye disease where the cornea at the front of the eye progressively becomes thinner and bulges out, resulting in severe visual impairment in young people. This project is investigating the genetic causes of keratoconus in a large collection of Australian patients. We aim to be better able to predict who will develop the disease and treat them earlier, as well as be able to target treatments to the causes of disease.
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.
Defining The Role Of Genetic Variants In Systemic Lupus Erythematosus: Copy Number Variants And Epigenetic Mechanisms
Funder
National Health and Medical Research Council
Funding Amount
$338,625.00
Summary
Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease associated with increased risk of mortality, severely impacting the quality of life for those affected. A large number of genes have been implicated in SLE susceptibility, however we know little of the genetic mechanisms proceeding disease onset. This project uses state of the art technology to define the role of genetic variants in SLE susceptibility and identify their importance across patients of different ethnic backgrounds.
Solving The Causes Of And Development Of New Therapies For Ankylosing Spondylitis And Related Diseases
Funder
National Health and Medical Research Council
Funding Amount
$863,910.00
Summary
Ankylosing spondylitis (AS) is a highly heritable and common form of arthritis affecting primarily the spine and pelvis, and is the 2nd most common form of arthritis worldwide (~0.55%). In this fellowship I will extend my world-leading program of AS research by increasing understanding of its basic causes through research into its genetic and environmental triggers, and from this develop new treatments for this and related diseases such as psoriasis and inflammatory bowel disease.