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.
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.
I am an epidemiologist using high quality data collections and novel methods to generate new knowledge that will help reduce the impact or prevalence of birth defects and related disability.
There are new genetic technologies on the horizon that will influence decision-making about testing in pregnancy for fetal abnormality and also create a greater need for communication of important genetic information in families. Two areas of my research will focus on these issues. I will also examine how the interaction between genes and the environment during pregnancy, specifically in relation to alcohol use and assisted reproduction, impacts on offspring health and development
Biomarkers For The Diagnosis And Prognostic Analysis Of Male Infertility
Funder
National Health and Medical Research Council
Funding Amount
$631,370.00
Summary
Male infertility is a common condition, affecting 1 in 15 men. Although a standard semen analysis is often performed to test whether a man is infertile, it is far from definitive. We have developed a new approach, by looking at proteins that are commonly missing from infertile sperm cells. From this analysis, we can definitively diagnose male infertility and are beginning to understand why men are becoming infertile.
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
Allergies and chronic respiratory diseases are major causes of illness and death in Australia. Worryingly there are still many gaps in knowledge on how best to prevent and manage these diseases. The proposed program will investigate these questions and provide evidence to guide health policy and clinical management. As this program is built on state-of the-art methods and technology, these original Australian findings will be of great importance internationally.