Regulation Of Mitochondrial Gene Expression In Disease
Funder
National Health and Medical Research Council
Funding Amount
$697,209.00
Summary
Mitochondria are microscopic powerplants that produce most of the energy in cells. Genes that make mitochondrial proteins must work properly to make the energy our bodies require for health. Defects in the expression of mitochondrial genes cause debilitating diseases for which there are no cures currently. A/Prof Filipovska will use new technologies to understand how these mutations cause disease and develop therapeutics for treatments of diseases caused by defects in mitochondrial genes.
Investigating Pathways To Alleviate The Burden Of Diabetes And Kidney Disease
Funder
National Health and Medical Research Council
Funding Amount
$622,655.00
Summary
Diabetes affects more than 1.2 million Australians and up to 40% of these will develop complications including kidney disease. Excess blood sugar as the result of diabetes can accelerate a biochemical process called advanced glycation, which permanently alters proteins affecting their structure and function. My research will focus on identifying new therapies to target advanced glycation as well as dysfunction of cell power stations, mitochondria which is caused by advanced glycation.
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.
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 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
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.
The genetic material is packaged in the cell nucleus with histone proteins. Modifications of histones determine if a particular area of the genome is active or repressed. We are investigating the roles of a family of histone modifying proteins, the MYST proteins. Mutations in these proteins cause intellectual disability and cancer. The research program will provide knowledge that may become the basis for the development of drugs for the treatment of cancer and neurodegenerative disorders.
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.
Determining recurrence risk in breast cancer is crucial, as more than half of all recurrences occur after 5 years. However, optimal management of breast cancer is hampered by the challenges in finding rational preventative and predictive targets. Our vision is to find targets responsible for progenitor cell expansion, as candidates for prevention, and to find markers of relapse, to predict early versus late responders to therapy.