The Associations Between Cognitive Decline And Genetic Polymorphisms, Hormones And Cardiovascular Risk Factors In Women.
Funder
National Health and Medical Research Council
Funding Amount
$358,079.00
Summary
Dementia, a major cause of morbidity and mortality in ageing women, has been linked to hormonal changes and genes. If factors associated with impaired cognition and early Alzheimer's disease could be identified then early interventions could be offered to those at risk. In this study we determine the genetic, medical and lifestyle factors which may be associated with cognitive decline and early Alzheimer's disease in women from pre-menopause into their post-menopausal years.
Epigenetic Hyperglycemic Cell Memory Causes Vascular Complications In Type 1 Diabetes
Funder
National Health and Medical Research Council
Funding Amount
$332,140.00
Summary
This project seeks to identify how epigenetic change in response to hyperglycemia can cause vascular complications of diabetes, and how this contributes to “hyperglycemic memory”; a phenomena where cells may undergo gene modifications which increase risk to further complications later in a patients life. These studies are the first of their kind and will characterize the types of epigenetic change that can cause human disease.
Identifying Novel Disease Genes In Abnormalities Of The Eye
Funder
National Health and Medical Research Council
Funding Amount
$123,454.00
Summary
The macula is located in the centre at the back of the eye and is essential for detailed and colour vision. There are familial forms of macular abnormalities and many elderly patients suffer from age-related macular degeneration. The gene function that is critical for the maintenance of a healthy macula is not fully known. In this project, a novel process in maintaining macular health will be investigated to identify the underlying genetic cause and associated functional defects.
Identification Of Genes Responsible For Disorders Of Sexual Development Using Genome-wide Copy Number Analysis
Funder
National Health and Medical Research Council
Funding Amount
$305,774.00
Summary
Congenital conditions in which development of the gonads or anatomical sex is abnormal are surprisingly common. The underlying cause of these problems is most often the failure of genes responsible for the proper development of testes or ovaries. Only a small proportion of patients can be explained by mutations in known gonad determining genes. We will analyse DNA from these patients on very high density microarrays to identify new genes that cause abnormalities in testis or ovary development.
Clinical Application Of Genomic Approaches For Cancer
Funder
National Health and Medical Research Council
Funding Amount
$707,370.00
Summary
Cancer is the cause of 1 in 8 deaths worldwide. Cancer occurs due to errors or mutations in the DNA of normal cells. I will identify the mutations in tumour cells, which will tell us: i) How the tumour started and grew ii) How to treat the tumour and kill the cancer The work involves a variety of cancer types including mesothelioma, melanoma, oesophageal and breast cancer. The overall aim is to apply some of the research findings or approaches into patient care to improve patient survival.
Novel Genomic Approaches To Identify The Missing Genetics Underlying Skeletal Muscle Disease.
Funder
National Health and Medical Research Council
Funding Amount
$1,935,965.00
Summary
Skeletal muscle diseases can result in death in infancy or cause life-long and significant physical disability. Many families do not have a genetic explanation for their condition. We will use established and new technologies to find the missing genetics causing these devastating diseases. Our work has world-wide impact for the patients and families affected by these diseases.
Melanomas are common cancers arising from the pigment cells of the skin. Sunlight is the principal environmental causal factor for this group of cancers, although there is increasing evidence that the effect of sunlight on the pigment cells is not the same for all people. We aim to answer the question. Does host phenotype predict the response of melanocytes to sunlight and in so doing, contribute information that may assist the development of effective prevention strategies