Investigating Genetic Determinants Of Absence Epilepsy In A Polygenic Rat Model
Funder
National Health and Medical Research Council
Funding Amount
$458,481.00
Summary
The underlying genetic causes of idiopathic generalised epilepsies (IGE) are still largely unknown. In an animal model of IGE we have discovered novel genetic abnormalities an ion channel. This proposal will build upon these novel findings to examine the role these abnormalities have in determining the absence epilepsy phenotype and this work has the potential to provide vital information regarding the mechanisms by which this gene contributes to an IGE seizure phenotype.
Early Detection Of Coronary Artery Disease: An Opportunity To Start Secondary Prevention Without A Coronary Event
Funder
National Health and Medical Research Council
Funding Amount
$132,743.00
Summary
Coronary artery disease (CAD) is a major cause of death and disability in Australia, and prevention is key. Our current techniques for predicting who is at high risk of CAD are imperfect or expensive. We aim to study how using the combination of a genetic and metabolic risk score can be used to cost-effectively predict this risk more accurately. By doing so, we aim to develop a new combined test to identify Australians at high risk of CAD so that prevention can be started early.
Psychosocial Aspects Of Genomic Testing For Breast Cancer Risk
Funder
National Health and Medical Research Council
Funding Amount
$108,902.00
Summary
Assessing a woman’s breast cancer risk by profiling polygenic risk represents a new approach in the familial cancer setting. My study is part of a program of research that aims to facilitate translation of polygenic risk information into clinical practice. For this, I will invite 400 women to receive their personal polygenic result and i) assess interest in receiving this result; ii) assess psychological and behavioural outcomes of receiving or not receiving their personal polygenic risk result
Defining Early Epigenetic Causes Of Cardiac Hypertrophy And Failure
Funder
National Health and Medical Research Council
Funding Amount
$620,917.00
Summary
A big heart is bad news, no matter what the cause. Sometimes this happens when the heart is under stress. At other times no cause can be found. These studies will identify the molecular switches and signals that can transform a normal heart into a big heart. Some of these are inherited, some activated by stress. Armed with knowledge of the molecular mechanisms we can identify those at risk and design new targets for novel treatment strategies.
Linkage And Sequence Analysis Of A Locus On The X Chromosome That Contributes To Population Variation In Blood Pressure
Funder
National Health and Medical Research Council
Funding Amount
$458,080.00
Summary
High blood pressure is a prominent risk factor for heart attack and stroke which kill over 30,000 Australians each year. Blood pressure is determined by the combination of inherited predisposition and lifestyle factors such as diet. Understanding these combinations offers new opportunities for reducing the incidence of cardiovascular disease. We have discovered recently that genes on the sex chromosome known as chromosome X appear to be linked with high blood pressure. Building on this basic obs ....High blood pressure is a prominent risk factor for heart attack and stroke which kill over 30,000 Australians each year. Blood pressure is determined by the combination of inherited predisposition and lifestyle factors such as diet. Understanding these combinations offers new opportunities for reducing the incidence of cardiovascular disease. We have discovered recently that genes on the sex chromosome known as chromosome X appear to be linked with high blood pressure. Building on this basic observation, we shall extend our studies to place the findings beyond reasonable doubt. We shall investigate the gene sequences in this region of the X chromosome to discover what changes in the DNA code might lead to high blood pressure and how this might happen. Our studies capitalise on the recent release of the draft sequence of the entire human genome. These investigations in almost 800 healthy volunteer families have the potential to provide new opportunities for prevention and treatment of cardovascular disease.Read moreRead less
Uncovering The Aetiology Of Myopia Through Identification Of Refraction And Ocular Biometric Genes
Funder
National Health and Medical Research Council
Funding Amount
$697,786.00
Summary
Myopia or short-sightedness affects 1 in 4 people in the Western world and is a major source of uncorrected vision loss, as well as blindness. This proposal aims to identify genes in myopia using a new technique called genome wide association. We will apply this technique to individuals collected through a population based Eye study to allow us to identify these genes. The outcomes of this work will allow us to identify high risk individuals as well as develop new measures to prevent myopia.
Microarray-targeted Candidate Gene Approach To Finding Ovarian Cancer Susceptibility Genes
Funder
National Health and Medical Research Council
Funding Amount
$612,933.00
Summary
We propose that subtle, heritable changes in the expression or function of genes that are switched off, or on, early in the development of ovarian tumours, may predispose the individual to ovarian cancer. We will are carry out a large study of the most common subtype of ovarian adenocarcinoma, serous invasive tumors, in order to identify genes that affect a woman's risk of ovarian cancer. Identification of women at elevated risk for ovarian cancer on the basis of their genotype will allow them t ....We propose that subtle, heritable changes in the expression or function of genes that are switched off, or on, early in the development of ovarian tumours, may predispose the individual to ovarian cancer. We will are carry out a large study of the most common subtype of ovarian adenocarcinoma, serous invasive tumors, in order to identify genes that affect a woman's risk of ovarian cancer. Identification of women at elevated risk for ovarian cancer on the basis of their genotype will allow them to be targeted for screening, and for intervention studies, as well as providing fundamental insight into the etiology of ovarian cancer.Read moreRead less
Linkage And Association Analyses Of A Locus On Chromosome 4 That Contributes To Population Variation In HDL Cholesterol
Funder
National Health and Medical Research Council
Funding Amount
$372,562.00
Summary
High-density lipoprotein (HDL) cholesterol is also known as good cholesterol becuase it helps remove cholesterol from the body. Many studies have shown that the higher one's HDL cholesterol, the less likely is the development of hardening of the arteries and heart attack. The important questions are what controls HDL cholesterol levels and how could we make them higher? We know that lifestyle and genetics are important. Smoking and lack of exercise are known to reduce HDL cholesterol, while mode ....High-density lipoprotein (HDL) cholesterol is also known as good cholesterol becuase it helps remove cholesterol from the body. Many studies have shown that the higher one's HDL cholesterol, the less likely is the development of hardening of the arteries and heart attack. The important questions are what controls HDL cholesterol levels and how could we make them higher? We know that lifestyle and genetics are important. Smoking and lack of exercise are known to reduce HDL cholesterol, while moderate alcohol intake increases HDL cholesterol. However, genetic factors are very important determinants, but have remained obscure. Through our recent discovery in the Victorian Family Heart Study (VFHS), we located a region on chromosome 4 that influences plasma level of HDL cholesterol. Further testing has confirmed and refined our genetic target - a gene somewhere in this region that controls HDL cholesterol levels. The next step is to find the culprit gene and the DNA sequences that explain why some people have high and others low HDL cholesterol levels. We have the advantage of a large and well characterised group of volunteers and the very latest molecular techniques to track down the gene. Few other groups internationally have our resources or are as advanced in their research. This study will have significant implications for the development of effective and targeted strategies for detection, prevention and treatment of cardiovascular disease.Read moreRead less
Towards An Etiological Understanding Of The Comorbidity Of Psychiatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$997,883.00
Summary
Pyschiatric disorders are common disorders with both genetic and environmental etilogy. The disorders are characterised both by significant overlap of symptoms and by significant heterogenity of symptoms within disorders. The availability of genome-wide genotypes allows us, for the first time, to investigate co-morbidity directly at the molecular level. Understanding the nature of co-morbidity between disorders nay be an important key to effective treatment.