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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.
Dissecting Genetic Variation For Human Complex Diseases And Traits
Funder
National Health and Medical Research Council
Funding Amount
$135,821.00
Summary
Understanding the pattern of inheritance for human common diseases such as cancers, obesity, diabetes and mental illness, is of key importance for disease diagnosis, treatment and prevention. In this project, we will develop statistical methods and software tools to analyse DNA and clinical data to better understand the genetic basis of human common diseases and to predict a person�s risk of developing disease.
Integrating Statistical Imputation Of HLA And KIR Alleles Into Studies Of Disease In Diverse Human Populations
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
Immune system genes are strongly implicated in many infectious and autoimmune diseases, as well as cancer. Some of these genes have many possible types due to natural selection in response to pathogens. This variability makes typing these genes very expensive. Developing accurate and inexpensive methods to type these genes is vital in understanding the role they play in susceptibility and progression of disease and will be important for the development of better diagnostic tests and treatments.
Understanding The Etiology Of Psychiatric Disorders Through Whole Genome Analyses
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
Psychiatric disorders exert a huge social and economic burden on society. In recent years, large genetic studies have led to important new insights into these disorders. Major new human genomics resources will soon become available. My research will take advantage of these datasets to investigate the genetic basis of key epidemiological features of psychiatric disorders, including risk due to parental age and sex-biased prevalence, and to identify novel risk genes for schizophrenia and autism.
Control Of Genome Regulation And Its Role In Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$419,180.00
Summary
Changes in DNA can lead to differences in susceptibility to developing many diseases. The most common mechanism by which this occurs is through changing when and in which tissues disease-relevant genes get translated into proteins. My research focuses on understanding how DNA changes result in altered gene expression and how this can affect disease susceptibility. This work requires the use of high performance computing and statistical analysis of large genome-scale datasets.
Psychosocial Implications Of Genetic Counselling And Testing
Funder
National Health and Medical Research Council
Funding Amount
$443,946.00
Summary
I am a psychologist by background, and my research program focuses on the psychological impact of genetic counselling and testing for adult-onset disorders, in particular cancer susceptibility; psychological adjustment of those at risk for adult-onset disorders; and the design and evaluation of interventions in the genetic counselling setting, in particular the use of decision aids as an innovative means of patient education.
Physiological, Biological And Genetic Abnormalitities Associated With The Postural Tachycardia Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$462,290.00
Summary
Postural Orthostatic Tachycardia Syndrome (POTS) is a clinical syndrome characterized by the development of excessive tachycardia (heart rate increases by 30 beats or more per min) when the upright position is assumed. The condition is accompanied by weakness, dizziness, presyncope or fainting. POTS has only recently come to international medical attention as the number of patients with the condition is steadily rising. The symptoms and ongoing disability in POTS appear to primarily result from ....Postural Orthostatic Tachycardia Syndrome (POTS) is a clinical syndrome characterized by the development of excessive tachycardia (heart rate increases by 30 beats or more per min) when the upright position is assumed. The condition is accompanied by weakness, dizziness, presyncope or fainting. POTS has only recently come to international medical attention as the number of patients with the condition is steadily rising. The symptoms and ongoing disability in POTS appear to primarily result from a supernormal reflex sympathetic activation on standing, in ways which are readily apparent for some symptoms, such as tachycardia, but obscure for others, such as postural syncope in the absence of postural hypotension. Poorly defined diagnostic criteria and the likelihood of multiple causes have made it difficult to clarify the underlying pathophysiology of POTS. In this project I will investigate the sympathetic nervous system response to head-up tilt in patients with POTS as well as possible genetic and epigenetic mechanisms which might underpin the syndrome. Preliminary results are encouraging and merit to be taken further.Read moreRead less
The Role Of Insulin Hypersecretion In Beta Cell Dysfunction In Type 2 Diabetes
Funder
National Health and Medical Research Council
Funding Amount
$318,622.00
Summary
The treatment of diabetes involves the use of drugs that stimulate the release of insulin from the pancreas to reduce the high blood sugar levels. However, we believe that while in the short term this is a good strategy, in the long-term it damages the cells that produce insulin leading to a worsening state of diabetes. It is the aim of this application to understand the mechanisms by which the insulin producing cells are damaged when forced to oversecrete insulin.