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.
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.
Developing And Applying Statistical Genetics Methods To Identify Genes, Molecular Biomarkers And Environmental Agents That Causally Affect Risk Of Complex Musculoskeletal Diseases
Funder
National Health and Medical Research Council
Funding Amount
$707,370.00
Summary
My aim is to identify genes, biological molecules and environmental factors that causally affect risk of osteoporosis and ankylosing spondylitis (a form of autoimmune arthritis) using novel and existing statistical genetics methodologies. My research will advance understanding of the causes of these diseases, identify new opportunities for their treatment, and provide the scientific community with new statistical methods and software to identify factors that causally influence risk of disease.
I am a genetic epidemiologist focused on bowel cancer risk. I will develop a comprehensive model to estimate individual cancer risk by studying the effects of personal characteristics, cancer history, genetic factors and family history of cancer using large data sets from international consortia I helped establish. My research will enable targeting of screening to those most at risk and will aid the discovery of new causes for bowel cancer.
Translation Of Genetic Findings Into Improved Health Outcomes For Common Eye Diseases In Our Society
Funder
National Health and Medical Research Council
Funding Amount
$675,736.00
Summary
Associate Professor Paul Baird of the Centre for Eye Research Australia, University of Melbourne specialises in identifying and understanding how genetic changes are involved in causing the commonest causes of vision loss and blindness in our society including age related macular degeneration, short-sightedness and glaucoma. His Fellowship will be used to better understand how genes and environment cause these diseases, allowing translation of findings intto new and improved treatments for patie ....Associate Professor Paul Baird of the Centre for Eye Research Australia, University of Melbourne specialises in identifying and understanding how genetic changes are involved in causing the commonest causes of vision loss and blindness in our society including age related macular degeneration, short-sightedness and glaucoma. His Fellowship will be used to better understand how genes and environment cause these diseases, allowing translation of findings intto new and improved treatments for patients.Read moreRead less
I work on mitochondrial diseases, which are inherited disorders of metabolism that block conversion of food energy into chemical energy needed by our cells. We focus on understanding (i) the genetic basis of these disorders using approaches such as massively parallel sequencing, systems biology and experimental studies, and (ii) the detailed mechanisms of disease by studying cell lines from patients and animal models. We aim to develop better methods for diagnosis, treatment and prevention.
There are two arms to the immune system, one that learns and adapts, which can cause autoimmune disease, and another that is immediate and innate, and can cause autoinflammatory disease. This proposal continues our work in the characterization of rare genetic autoinflammatory disesaes and extrapolates these studies to more common chronic inflammatory diseases. This stands to improve current diagnosis and treatment, and elucidate future drug targets that could be targeted clinically.
I am interested in using new technologies to understand how and why cancers develop. I am focused on sarcomas, cancers that particularly affect the young, but rare and neglected cancers more generally. I want to use the knowledge we can gain from basic research to develop new models of clinical care, that will reduce the morbidity and mortality from these deadly diseases.
The aim of this application is to find new therapeutic strategies for genetic epilepsy. "Disease in a dish" models as well as whole animal models will be generated that contain patient gene mutations and the underlying disease processes will be characterised. Using these models a range of existing and new drugs will be tested to select those that most completely reverse these disease processes. These results will feed into clinical trials in patients with appropriate genetic profiles.
Germinal Centres, Rogue B Cells And The Genesis Of Immunological Diseases.
Funder
National Health and Medical Research Council
Funding Amount
$753,300.00
Summary
This study will determine how the immune system is normally prevented from producing autoantibodies that target the body's own cells and how this fails in autoimmune diseases such as lupus. Targeted studies of a newly discovered "rogue" white blood cell will also provide new clues on how autoimmune diseases arise. In addition, modeling of human immunological disease in mice via CRISPR/Cas9 mutagenesis will provide valuable new insights into their causes and potential treatments.