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
Identification And Characterisation Of Novel Mouse Models For Recessively Inherited Deafness.
Funder
National Health and Medical Research Council
Funding Amount
$504,750.00
Summary
Hearing loss affects 10% of Australians. Approximately 1 in 1000 children is born deaf. Another 1 in 1000 people develops hearing loss by adulthood. A progressive hearing impairment occurs with age so that more than 50% of people over the age of 75 have a substantial hearing loss. The financial, social and personal costs of deafness are significant. Deafness is caused by environmental and- or inherited factors. Environmental risk factors include premature birth, infections and exposure to loud n ....Hearing loss affects 10% of Australians. Approximately 1 in 1000 children is born deaf. Another 1 in 1000 people develops hearing loss by adulthood. A progressive hearing impairment occurs with age so that more than 50% of people over the age of 75 have a substantial hearing loss. The financial, social and personal costs of deafness are significant. Deafness is caused by environmental and- or inherited factors. Environmental risk factors include premature birth, infections and exposure to loud noise. Inherited factors include changes (mutations) in one of many genes whose products are essential for normal hearing. In the majority of children and young people with a hearing impairment the underlying cause is genetic. It is also thought that genetic predisposition frequently contributes to the early onset and the severity of age-related hearing loss. However, it has been difficult to identify the genes causing deafness, and as a consequence we know relatively little about what these genes do. The mouse ear is very similar to the human ear and in this application we propose to use mice to identify and study deafness genes. Australia has a unique resource of mice that are being especially bred to uncover genetic diseases. We have shown that 1 in a 1,000 of these mice have a genetic hearing loss similar to that found in most newborns and young people. These mice therefore provide us with an exceptional opportunity to discover novel deafness genes, which again will provide us with more information about how we hear. We will investigate why changes in these genes causes hearing loss and this information will allow us to determine in detail how genetic and environmental factors lead to hearing loss in young and old. The results will immediately allow us to offer earlier diagnosis and better counselling to affected families, and in the longer term we believe our research will enable us to develop improved or novel treatments to delay or prevent deafness.Read moreRead less
Genetic And Bioinformatic Analysis Of Complex Human Diseases
Funder
National Health and Medical Research Council
Funding Amount
$8,752,567.00
Summary
Some human diseases are common in families; examples include prostate cancer, blood cancers, epilepsy and diabetes. Therefore, close relatives of individuals with a disease have an increased risk of being affected by this disease, implying a genetic basis. Finding the cause of these diseases is difficult, we will be developing novel approaches to the identification of genes responsible for these diseases. This is the first step towards the development of treatments for affected individuals.
Genome-wide Association Study For Genes That Determine Environmental Sensitivity In Cardiovascular Disease Risk
Funder
National Health and Medical Research Council
Funding Amount
$287,321.00
Summary
There are many known lifestyle and environmental influences for the development of cardiovascular disease. But are there genes that control how susceptible an individual is to these environmental influences? Discovery of such genes could have far greater implications for the prevention and treatment of disease than genes which simply affect levels of the trait. This project will identify genes that affect the environmental susceptibility for cardiovascular disease risk factors.
Genome-wide Association Studies Of Biomedical Traits And Endophenotypes For Complex Disease
Funder
National Health and Medical Research Council
Funding Amount
$295,804.00
Summary
The burden of common complex diseases, such as cardiovascular disease is substantial to the health care system. These diseases are caused by genes and environments as well as their interactions. The proposed project will identify genes affecting the susceptibility of individuals to complex diseases. Discovery of such genes will be important for their diagnosis, prevention and treatment and may serve as an important resource for future personalized medicine.
I am a molecular geneticist with a main research focus in the identification and characterisation of genes and molecular pathways involved in intellectual disability and epilepsy.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0668440
Funder
Australian Research Council
Funding Amount
$850,000.00
Summary
Advanced technology for transcriptomics, genomics and gene mapping. Acquistion of the equipment requested in this application will maintain the expertise developed by researchers within New South Wales and attract and retain exceptional individuals who can contribute to our understanding of how genes interact with one another. The benefit of such an enhances facility will be the delivery of a better functional understanding of health and disease which will provide both community and national be ....Advanced technology for transcriptomics, genomics and gene mapping. Acquistion of the equipment requested in this application will maintain the expertise developed by researchers within New South Wales and attract and retain exceptional individuals who can contribute to our understanding of how genes interact with one another. The benefit of such an enhances facility will be the delivery of a better functional understanding of health and disease which will provide both community and national benefits. The primary purpose of this LIEF application is to standardize approaches to the study of genome function across the nodes of the Ramaciotti facility and to expand the capacities of the facility to cope with the increased demand in this technology. Read moreRead less
Special Research Initiatives - Grant ID: SR0354500
Funder
Australian Research Council
Funding Amount
$10,000.00
Summary
ARC Research Network in Microarray Technology. The primary aim of this proposal is to transform the premier genomic technology into a standard research tool; microarrays are now a priority for anyone studying the genetics underlying key biological processes. A principal challenge for the Australian research community is to capture all aspects of microarray technology and make them readily available. We will address these needs by developing a network to:
-establish regular research meetings,
- ....ARC Research Network in Microarray Technology. The primary aim of this proposal is to transform the premier genomic technology into a standard research tool; microarrays are now a priority for anyone studying the genetics underlying key biological processes. A principal challenge for the Australian research community is to capture all aspects of microarray technology and make them readily available. We will address these needs by developing a network to:
-establish regular research meetings,
-facilitate training in array methodologies and bioinformatics,
-co-ordinate innovation of technologies,-provide centralised data warehousing,
-provide access to automated high-level gene annotation,
-provide data mining tools,
-set standards for data management and exchangeRead moreRead less
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE0560714
Funder
Australian Research Council
Funding Amount
$509,131.00
Summary
Phenotype genotype comparisons using functional genomic approaches. The Ramaciotti Centre for Gene Function Analysis comprises a multi-node network across the state of NSW involving 4 major universities. Using the resources of the Centre, over 100 researchers are undertaking projects comparing genotypes and phenotypes utilising state-of-art genomic based strategies comprising microarrays and SNP analysis. This application will further expand the resources available to researchers with the additi ....Phenotype genotype comparisons using functional genomic approaches. The Ramaciotti Centre for Gene Function Analysis comprises a multi-node network across the state of NSW involving 4 major universities. Using the resources of the Centre, over 100 researchers are undertaking projects comparing genotypes and phenotypes utilising state-of-art genomic based strategies comprising microarrays and SNP analysis. This application will further expand the resources available to researchers with the addition of: (1) Affymetrix based chip microarrays; (2) Options for setting up SNP analysis for both high throughput, and medium throughput analyses and (3) Expanding the robotics options available throught the Centre.Read moreRead less
Role Of Condensin In Chromosome Organisation And Regulation
Funder
National Health and Medical Research Council
Funding Amount
$589,425.00
Summary
When a cell divides, its hereditary material (DNA) must be copied and equally segregated into each daughter cell. Our DNA is organised into a number of long units known as chromosomes. In order for our genetic material to be faithfully segregated into two daughter cells, the chromosomes must compact nearly 10,000 fold. A key component is condensin and we aim to find out how condensin directs the organisation and compaction of the mammalian chromosome.