We recently established the Centre for Neurogenetics and Statistical Genomics, a research centre within the Queensland Brain Institute. It was established to bring together a team of researchers with expertise in neurogenetics, neuropsychiatric genetics, statistical genomics and computational biology. During my Fellowship I will conduct research at this Centre to elucidate the genetic basis of neurogenetic diseases and psychiatric disorders, using genomic tools and data analysis.
This study is aimed at identifying genetic variants that influence susceptibility to migraine. We plan to use DNA samples already collected from families with multiple migraine affected individuals and sequence a region on the X chromosome that has previously been identified as harbouring a migraine susceptibility gene. This project will identify gene(s) that contain variants contributing to migraine.
Development And Application Of A Mendelian Randomization Framework Aimed At Dissecting The Biological Basis Of Ankylosing Spondylitis And Other Complex Diseases
Funder
National Health and Medical Research Council
Funding Amount
$279,666.00
Summary
Our aim is to identify genes and biological molecules that cause a type of autoimmune arthritis called ankylosing spondylitis. Our approach involves finding combinations of genes that are related to biological molecules of interest and then testing to see whether the gene combination is also related to risk of disease. We hope that our strategy will lead to new drug treatments targeting the condition.
CAGE: Consortium For The Architecture Of Gene Expression
Funder
National Health and Medical Research Council
Funding Amount
$501,080.00
Summary
This research project is about understanding why some people are most susceptible to disease than others, by identifying genetic factors that influence the expression of genes that are important in disease. We will work with leaders in the field in Europe and the USA in an international research consortium to find genetic variants with an effect on gene expression and to link those genetic factors to disease. The project will provide new understanding about the biological basis of common disease ....This research project is about understanding why some people are most susceptible to disease than others, by identifying genetic factors that influence the expression of genes that are important in disease. We will work with leaders in the field in Europe and the USA in an international research consortium to find genetic variants with an effect on gene expression and to link those genetic factors to disease. The project will provide new understanding about the biological basis of common diseases.Read moreRead less
Exome Sequencing By NGS To Identify Rare Variants Affecting Type 2 Diabetes
Funder
National Health and Medical Research Council
Funding Amount
$570,425.00
Summary
Rates of type 2 diabetes are rising dramatically, and current efforts are failing to stem its progression. More information about why the disease develops is urgently needed. We apply the latest technological innovations in DNA analysis to accelerate the discovery of the mechanism behind the development of type 2 diabetes. This knowledge will lead to new ways to control diabetes through development of novel therapies.
Applying Next Generation Sequencing To Family Studies
Funder
National Health and Medical Research Council
Funding Amount
$182,622.00
Summary
Recent advances in technology can determine the DNA composition of a person for much longer stretches of DNA, at a much cheaper cost. I use statistical analysis to identify regions of the human genome that harbour mutations that cause diseases such as epilepsy in families. These regions contain 5-15 million base pairs. We need to find the ONE base pair that causes disease. This application deals with the development of new tools to exploit new technology for the identification of mutations.
Social media, weather forecasting and mineral exploration are driven by Big Data enabled by new technologies. Likewise, disease prevention, diagnosis and prediction is moving towards personalised and precision medicine, facilitated by novel genomics technologies. This Program of research will develop analysis methods and tools and apply them to clinical genomics data in neurological and psychiatric disorders, thereby paving the way for the translation of genomic tools to common diseases.
Preconception Carrier Screening: Providing Genetically At Risk Families With A Chance To Have Healthy Children
Funder
National Health and Medical Research Council
Funding Amount
$857,443.00
Summary
Current preconception carrier screening is not widely accessible and has no public funding. We will develop a model of the social and economic impacts of genetic disorders on families and government and the cost of a range of genomic technologies to determine the social and economic benefits that could be realised by the introduction of accessible and affordable preconception carrier screening using existing technologies: gene panels and advances in whole genome sequencing (WGS).
Human Genetic Susceptibility To Pulmonary Tuberculosis
Funder
National Health and Medical Research Council
Funding Amount
$760,432.00
Summary
Tuberculosis (TB) infects about a third of the world population, causing significant disease in 10% of infected individuals. We propose to undertake a genome-wide study to investigate human susceptibility to this devastating disease. Identifying novel gene associations from this study may explain why some people are more vulnerable to TB. Understanding these processes may lead to more effective treatments which is essential for the long term control of disease not only in China, but worldwide
Defining The Role Of Genomic Structural Variations In Hypertension And Cardiovascular Disease
Funder
National Health and Medical Research Council
Funding Amount
$379,597.00
Summary
High blood pressure is caused by a variety of inherited alterations (mutations) in the letters our DNA and lifestyle. The aim of this project is to investigate gains and losses of large portions of DNA sequences consisting of between ten thousand and over a million letters (known as Copy Number Variation). We will compare the DNA of subjects who have high blood pressure with subjects who are normal. This discovery of changes may help diagnosis, prevention and treatment.