Fine Scale Mapping And Identification Of The IBD1 Gene On Chromsosome 16
Funder
National Health and Medical Research Council
Funding Amount
$483,849.00
Summary
One of the greatest challenges facing contemporary gastroenterology is to understand the causes of the inflammatory bowel diseases (IBD). Studies on the prevalence, incidence and cost of IBD indicate that these diseases have considerable impact in Australia. On average, patients lose more than 13 days from work each year, and in hospital, IBD in-patients accounted for 7% of total admissions and 10% of total bed days at an average cost of $2600 per admission. We estimate that there may be more th ....One of the greatest challenges facing contemporary gastroenterology is to understand the causes of the inflammatory bowel diseases (IBD). Studies on the prevalence, incidence and cost of IBD indicate that these diseases have considerable impact in Australia. On average, patients lose more than 13 days from work each year, and in hospital, IBD in-patients accounted for 7% of total admissions and 10% of total bed days at an average cost of $2600 per admission. We estimate that there may be more than 10,000 Australians who suffer from IBD. The existence of a genetic predisposition to IBD is now well established, and there is strong evidence that the disease is complex, resulting from the interaction of a number of different genes. To date, one genetic localisation on chromosome 16 has been established in several different populations, and we have confirmed the importance of this localisation in the Australian population. We will further refine the localisation by fine scale mapping in the pericentromeric region of chromosome 16 by identifying and studying the inheritance of novel markers in the region. We will then identify and characterise the gene itself using several complementary appoaches that rely on differences at the molecular level between disease and normal tissue. This work is part of the international effort to identify all IBD susceptibility genes. Once that is achieved, approaches to explaining the interactions between the genes, their protein products and environmental triggers can be determined. Only when the mechanisms of these interactions are understood will the expectation of rational therapies based on an understanding of disease aetiology be possible.Read moreRead less
Use Of Expression Profiling To Identify Genes Influencing Cardiovascular Risk In The Norfolk Island Population Isolate
Funder
National Health and Medical Research Council
Funding Amount
$697,409.00
Summary
This study will use a unique population isolate from Norfolk Island. We aim to identify genes that play a role in cardiovascular disease risk. Norfolk has a population of ~1200 permanent residents, most of whom are direct descendents of 18th century English Bounty mutineers and Polynesian women. We will undertake gene expression mapping to identify genomic loci that influence cardiovascular disease using samples from this population isolate.
DISSECTING THE GENETICS OF GLAUCOMA AND ITS RISK FACTORS USING A TWIN STUDY.
Funder
National Health and Medical Research Council
Funding Amount
$682,850.00
Summary
Glaucoma is one of the leading causes of blindness both in Australia (affecting 2-3% of the population) and worldwide. Glaucoma is often asymptomatic until it causes permanent loss of peripheral vision that precludes 10% of individuals with the condition from holding a driver's license. Around 50% of people with glaucoma are unaware that they have the condition; therefore better screening strategies are required. Genetic factors have been shown to contribute to glaucoma and our work has revealed ....Glaucoma is one of the leading causes of blindness both in Australia (affecting 2-3% of the population) and worldwide. Glaucoma is often asymptomatic until it causes permanent loss of peripheral vision that precludes 10% of individuals with the condition from holding a driver's license. Around 50% of people with glaucoma are unaware that they have the condition; therefore better screening strategies are required. Genetic factors have been shown to contribute to glaucoma and our work has revealed that 50% of people with glaucoma have a family history of the condition. Raised intraocular pressure (IOP) is a major contributing factor in glaucoma. Although there are some genes associated with high-pressure glaucoma, little is known about the heritability of IOP itself. Optic disc cupping is another important sign in the diagnosis and management of glaucoma, but again little is known of the inheritance of this feature. Twin studies, (comparing sets of identical twins with non-identical twins); allow us to estimate the relative contribution of genetic and environmental factors to disease states or physiological measurements. Although there have been small studies involving twins with glaucoma, it is unknown to what degree the basic parameters of glaucoma diagnosis such as IOP and optic disc characteristics are heritable. This project aims to conduct a large twin study into glaucoma and its associated ocular risk factors, including refractive error. We aim to identify genes that predispose to glaucoma, which will facilitate better screening for glaucoma in family members, and the general population, and ultimately leading to improved treatment.Read moreRead less
Linkage And Association Studies Of Schizophrenia In An Isolated Population.
Funder
National Health and Medical Research Council
Funding Amount
$693,726.00
Summary
The cause of schizophrenia is unknown, but there is good evidence that genes play a role. Geneticists do not fully understand how the disease is inherited, but it is very complex, and several interacting genes as well as environmental factors are likely involved. To address this complexity, we have recruited large schizophrenia pedigrees from the Iban of Sarawak, a geographically and genetically isolated population. This sample will help clarify the genetics of this devastating illness.