Most eye diseases have a genetic contribution, whether rare disorders affecting children such as retinoblastoma or congenital cataracts through to common disorders of older people such as myopia, age-related macular degeneration or glaucoma. We will continue our successful research to find genes that cause these diseases and use this to improve patient care and prevent blindness. We will work out how families can use this genetic information to participate in trials to develop new treatments.
A Study Addressing Motor, Cognitive And Attentional Deficits In Presymptomatic Gene Carriers For Huntington's Disease
Funder
National Health and Medical Research Council
Funding Amount
$180,330.00
Summary
Since the discovery of the Huntington's disease (HD) gene mutation there has been much controversy in the literature relating to whether there are any preclinical deficits in individuals who are gene positive for HD but who have not yet been clinically diagnosed with the disease. Our aim is to examine, over a three year period, the cognitive, attentional and motor performance of presymptomatic gene-positive, and negative, individuals on a wide variety of computerized experimental procedures, whi ....Since the discovery of the Huntington's disease (HD) gene mutation there has been much controversy in the literature relating to whether there are any preclinical deficits in individuals who are gene positive for HD but who have not yet been clinically diagnosed with the disease. Our aim is to examine, over a three year period, the cognitive, attentional and motor performance of presymptomatic gene-positive, and negative, individuals on a wide variety of computerized experimental procedures, which we have previously shown to be sensitive to deficits in individuals who have already been diagnosed with HD. If progressive behavioural changes in gene-positive individuals can be reliably documented to occur before the clinical symptoms of HD are evident, this would be of profound significance as it would allow a set of criteria to be established to assist in early detection of clinical onset of symptoms, and possibly permit use of newly-emerging therapies.Read moreRead less
High Penetrance Deleterious Mutations In Blinding Glaucoma
Funder
National Health and Medical Research Council
Funding Amount
$1,345,055.00
Summary
This project aims to identify the genes most commonly mutated in individuals with advanced glaucoma. Identification of such genes will lead to improved understanding of glaucoma pathogenesis, a better ability to predict risk, and the identification of drug targets for novel therapies.
Fellowship Application, Ed Stanley: Pluripotent Stem Cells & Medical Research
Funder
National Health and Medical Research Council
Funding Amount
$638,517.00
Summary
Human Pluripotent Stem Cells are immortal cells that have the ability to turn into any of the cell types found in the body. This means that it is now possible to generate a variety of human cell types in the laboratory, to study how they work, and to find out what goes wrong in different diseases. In this context, the overall aim of my research is to develop pluripotent stem cells for the study of human disease and generate tools that will enable others to use these cells in their own research.
MicroRNA Networks That Safeguard The Functional Program Of Regulatory T Cells
Funder
National Health and Medical Research Council
Funding Amount
$457,941.00
Summary
A newly discovered group of molecules termed microRNAs are thought to function as rheostats for the activity of genes. We have shown that these molecules are critical for the function of an immune cell type termed regulatory T cells. Without these cells, the immune system is unable to prevent uncontrolled and destructive inflammation. This proposal aims to utilize diverse technologies to uncover the precise molecular mechanisms by which microRNAs safeguard the function of regulatory T cells.
Synchrotron X-ray Assessment Of Airway Surface Physiology For Cystic Fibrosis
Funder
National Health and Medical Research Council
Funding Amount
$778,228.00
Summary
We seek a cure or long-lasting therapy for the fatal airway disease in cystic fibrosis. Disease is caused by a shallow and dehydrated airway surface liquid (ASL), allowing bacteria to infect the lung. We can introduce a corrective gene into mouse airways where it can be effective for over 1 yr, but no fast, accurate and non-invasive measurement exists to test if treatments are successful. We will develop methods using synchrotron light to directly measure ASL depth changes in live mouse airways.
Finding The Genetic Causes Of Asthma: The Australian Asthma Genetics Consortium (AAGC)
Funder
National Health and Medical Research Council
Funding Amount
$1,697,639.00
Summary
Asthma is a major burden on individuals and health systems. Despite many decades of research, no major effective new treatments for asthma have emerged recently. We will establish a large international consortium to systematically test nearly all known human genes to identify those that influence asthma susceptibility. We expect to identify pathways not previously implicated in asthma and so lead to a potential breakthrough in the development of more effective treatments.
Epigenetic Programming Of Immune Development In Utero: Role Of The Maternal Environment In The Allergy Epidemic
Funder
National Health and Medical Research Council
Funding Amount
$764,463.00
Summary
This study will provide new insights into the development of allergic disease. Specifically, we will explore the hypothesis that allergic disease and other disorders or immune dysregulation occur as a result of gene-environmental interactions in early life, and that these events begin in pregnancy when the developing fetus is still developing and most susceptible to these effects.
Improving Outcomes For Women Diagnosed With Mucinous Ovarian Cancer
Funder
National Health and Medical Research Council
Funding Amount
$598,238.00
Summary
Mucinous ovarian cancer (MOC) is different from other ovarian cancers but few studies have characterized the genetic changes specific to this subtype. It is often confused with metastases from other organs and does not respond well to standard ovarian cancer therapies. If MOC is more similar to mucinous cancers from other organs than other ovarian cancers, it may be better treated with chemotherapeutics that show success with other mucinous tumours.
Integrating Immunity And Genetics In Follicular Lymphoma To Establish A Prognostic Score Fit For The Modern Era
Funder
National Health and Medical Research Council
Funding Amount
$1,377,174.00
Summary
Follicular lymphoma (FL) is divided into early and advanced stages. Early stage FL is frequently cured, but there is no way to identify who will be cured and who won't. By contrast advanced stage FL is incurable. Our unique access to well-annotated clinical trial and population based cohorts allows us to perform a detailed biological comparison of early and advanced FL, to gain a deeper understanding of the impediments to eradicating the disease, and to predict outcome to conventional therapy.