Coordination Of The Fanconi Anemia Pathway To Maintain Genome Stability
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
Fanconi anaemia is a heritable disorder where bone marrow failure occurs on average at age seven and is the major cause of death at around age 20. Many patients also develop leukaemia, representing another overwhelming hurdle in their youth. The incorrect function of any one of 19 proteins can lead to Fanconi anaemia. We will search for a drug that can compensate for the absence of one of these proteins to allow correct function of the other proteins offering possible leads for treatment.
Envelope Glycoprotein Determinants Underlying Cytopathicity Of CCR5-restricted Human Immunodeficiency Virus Type 1
Funder
National Health and Medical Research Council
Funding Amount
$428,602.00
Summary
HIV weakens the immune system causing AIDS, but the mechanism by which HIV does this are poorly understood. This proposal aims to define these mechanisms. We expect that HIV evolves in infected people, becoming better able to infect and kill cells of the immune system, and that this results from specific genetic changes in the virus. This study will contribute to a greater understanding of how HIV causes AIDS, which is necessary for the development of new drugs to treat HIV infection.
L1 Retrotransposition In Human Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$414,085.00
Summary
Retrotransposons are mobile genes that copy-and-paste themselves in the human genome. Previously thought to represent ñjunk DNAî, retrotransposons are increasingly being found to play important roles in biology. This fellowship will allow Dr Faulkner to research the consequences of retrotransposons being active in the body during development, and in adulthood, as a potential cause of cancer.
Chromatin Dynamics As A Driver Of Disease Initiation And Development
Funder
National Health and Medical Research Council
Funding Amount
$419,180.00
Summary
Epigenetic programming ensures that the right genes are expressed in the right amount, in the right cell type at the right time. Our OVERALL AIM is to identify how this programming is altered in certain cancers and dementias and to determine whether this is a cause or driver of disease. This study has great potential to identify the epigenetic marks that will be the best targets for new therapies.
Nuclear architecture is critical to the preservation of genome integrity. The aim of this research proposal is to delineate the role of chromatin organisation in transcription factor target search and damage site recruitment of DNA repair factor machinery. To achieve this I have developed fluorescence microscopy methods to monitor changes in chromatin structure with submicron resolution. Only with this technology can I determine how chromatin dynamics maintain genome integrity or induce disease.
Female fertility and age at menopause are determined by the number and quality of eggs stored in the ovaries. For unknown reasons, two-thirds of all eggs die soon after they are made. Furthermore, a serious side effect of cancer treatment is egg death resulting in infertility and early menopause. I am unravelling the genes involved in determining whether an egg will live or die. This understanding will help us develop novel strategies to preserve fertility during aging and cancer treatment.
Genetics Of DNA Methylation And Its Role In Disease Susecptibility
Funder
National Health and Medical Research Council
Funding Amount
$428,065.00
Summary
DNA methylation is a chemical modification to DNA that sits on the interface of an individual's genetics and environment, which is critical for regulating many cellular processes. There is increasing evidence for a major role of variation in DNA methylation in development of disease and it provides a potential therapeutic target. This research will fill fundamental gaps in our knowledge of the genetic and environmental control of differences in levels of DNA methylation in the population.
Impact Of Pneumococcal Vaccination And Environmental Factors On Pneumococcal Carriage And Disease.
Funder
National Health and Medical Research Council
Funding Amount
$455,872.00
Summary
Pneumonia is the leading killer of children <5y of age worldwide, and the pneumococcal bacterium is a common cause. Pneumococci are carried in the noses of healthy children. In this project we will determine 1) whether carriage can be used to monitor the impact of vaccination in resource-poor settings, 2) the effect of new vaccines on ear disease and transmission using infant mouse models and 3) if exposure to smoke effects the ability of pneumococci to cause disease and altered gene expressi ....Pneumonia is the leading killer of children <5y of age worldwide, and the pneumococcal bacterium is a common cause. Pneumococci are carried in the noses of healthy children. In this project we will determine 1) whether carriage can be used to monitor the impact of vaccination in resource-poor settings, 2) the effect of new vaccines on ear disease and transmission using infant mouse models and 3) if exposure to smoke effects the ability of pneumococci to cause disease and altered gene expression.Read moreRead less
Screening And Characterisation Of Mammalian Epigenetic Modifiers
Funder
National Health and Medical Research Council
Funding Amount
$470,143.00
Summary
All the information to form an adult is contained in the DNA of the fertilized egg. Development is achieved by turning genes on and off, controlled by proteins called epigenetic modifiers. Sometimes this fails, leading to disease. Despite their vital role, we have data on just 20% of the potential epigenetic modifiers in humans. I will use novel screen-based technology to find hundreds more, to enable us and others to characterise the role of epigenetics in normal development and disease.