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.
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
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.
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.
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.
Through this Australia Fellowship, Prof Keall and his tream will substantially improve the accuracy and effectiveness of radiation therapy for cancer by developing new techniques that will be able to ‘target’ a tumour in real-time and ‘concentrate fire’ on the most resistant and aggressive parts of it. Success in physiological targeting will create a paradigm shift in radiation therapy and could literally be a lifesaver. It’s a big challenge, but if this five-year research program succeeds, it w ....Through this Australia Fellowship, Prof Keall and his tream will substantially improve the accuracy and effectiveness of radiation therapy for cancer by developing new techniques that will be able to ‘target’ a tumour in real-time and ‘concentrate fire’ on the most resistant and aggressive parts of it. Success in physiological targeting will create a paradigm shift in radiation therapy and could literally be a lifesaver. It’s a big challenge, but if this five-year research program succeeds, it will pay big dividendsRead moreRead less
Mental illness is the largest single cause of disability in Australia. While mental illness is increasingly recognised as a disorder of the brain, a patient’s diagnosis, treatment and prediction of course of outcome is seldom guided by the results of a biological test. My research aims to combine the power of modern brain imaging and cutting-edge bioinformatics to enable a biological approach to the problem of mental illness.