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.
An inability to control human fertility is an issue of global significance. Frequently both unwanted pregnancies and infertility result from the same origin, a lack of understanding of how germ cells are produced. Within this fellowship I will define key processes involved in the manifestation of male fertility. Further I will extend these insights into both the fertility clinic but also into human health more broadly.
It is clear that the health and disease burden of offspring can be programmed by events before birth. This project will answer questions as to how this programming occurs. My focus is to understand how the environment affects the oocyte, sperm and embryo and how this impacts on the offspring. We will specifically study the effects of obesity and nutritional status of the parents but also the in vitro environment with a view to improving IVF outcomes.
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.
I am a reproductive biologist focused on women’s reproductive health. I am studying the reasons why some women are infertile have spontaneous abortions and pregnancy complications such as pre-eclampsia. My research will define the roles of molecules that are critical in the establishment of pregnancy and the formation of a health placenta and therefore a healthy baby.
Platelets are key blood elements that are essential for the prevention of bleeding in response to injury or infection. Overactive or spontaneously active platelets cause thrombosis and blood clot formation. My laboratory has identified new physiological pathways of activation of platelet metalloproteinases, the enzymes that regulate surface levels of the prothrombotic platelet receptors. By understanding this mechanism of receptor regulation, we can uniquely target platelet receptors in people w ....Platelets are key blood elements that are essential for the prevention of bleeding in response to injury or infection. Overactive or spontaneously active platelets cause thrombosis and blood clot formation. My laboratory has identified new physiological pathways of activation of platelet metalloproteinases, the enzymes that regulate surface levels of the prothrombotic platelet receptors. By understanding this mechanism of receptor regulation, we can uniquely target platelet receptors in people with prothrombotic pathologies.Read moreRead less