Epilepsy is a very common and serious brain disorder. Epilepsy often includes other disabilities, reduction in quality of life and is associated with increased risk of early death. 30% of people with epilepsy are unable to gain control of their seizures with currently available medications. The genetic causes of the large majority of epilepsy cases have not yet been found. This project aims to identify new genetic causes of epilepsy and its related disorders.
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.
I aim to decipher the role of heritable, genetic DNA variation in human neurological disease. I will use next generation genomics technologies together with sophisticated cellular models to address the important questions of the biology of epilepsy and intellectual disability in particular. I aim to develop a treatment for a specific type of epilepsy, which affects only girls from the age of 6 months. My ultimate goal is to improve the life of the patients and their relatives.
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 Molecular Biologist who has built up a large set of transgenic animal models based around the NPY system to use them in an integrated physiology approach to investigate important regulatory mechanisms in the interaction of the brain with peripheral
High-Throughout Identification And Targeting Of New Breast Cancer Genes.
Funder
National Health and Medical Research Council
Funding Amount
$640,210.00
Summary
Recent studies have identified DNA sequence variations within the human genome that are associated with an increased risk or can influence the outcome of breast cancer. This research program will identify the key genes affecting cancer development and assess their contribution to cancer growth. I will then use this knowledge to assess their suitability for drug development. Understanding how our DNA contributes to breast cancer will provide new avenues for prevention or treatment.
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.