Population Genetics And Functional Genomics Approaches To Improve Outcomes For Patients With Colorectal Cancer
Funder
National Health and Medical Research Council
Funding Amount
$466,492.00
Summary
Colorectal cancer (CRC) is the third leading cause of cancer related death in Australia, and the 5-year survival rate for metastatic disease remains below 10%. Over the next 4 years, my translational research program will focus on improving patient outcomes in four ways: Discovery of inherited variants affecting CRC risk and progression, tumour molecular classification, discovery of markers for prognosis and drug response, and elucidation of the molecular mechanisms driving CRC development.
Genome-wide Analysis Of Gene Coding Variants Increasing Risk Of Endometriosis
Funder
National Health and Medical Research Council
Funding Amount
$705,035.00
Summary
Developments in genomics provide tools to find genes linked to endometriosis risk. Functional variants in protein coding regions of genes are an important class of disease causing variant and these have not been systematically screened. This project aims to use new methods to survey >95% of low frequency protein coding changes to find functional variants in genes and help develop reliable disease biomarkers and effective preventative and therapeutic strategies for this important disease.
Identification And Characterisation Of Nessy; A Novel Gene Important For T Cell Differentiation.
Funder
National Health and Medical Research Council
Funding Amount
$250,500.00
Summary
This project aims to identify, and understand the function of, a new gene involved in the immune system. The Nessy mouse strain was developed in Prof. Goodnow s Medical Genome Centre at the Australian National University. It has a mutation in an unknown gene which causes a defect in T lymphocytes- white blood cells which are important for fighting infection. This project has three major aims: 1) to identify the gene. 2) to understand the defects in T lymphocytes caused by the gene. 3) to identif ....This project aims to identify, and understand the function of, a new gene involved in the immune system. The Nessy mouse strain was developed in Prof. Goodnow s Medical Genome Centre at the Australian National University. It has a mutation in an unknown gene which causes a defect in T lymphocytes- white blood cells which are important for fighting infection. This project has three major aims: 1) to identify the gene. 2) to understand the defects in T lymphocytes caused by the gene. 3) to identify which other genes interact with the mutant gene. Thus will allow us to understand how the mutant gene causes the T lymphocyte defects. This project will improve our understanding of the development and functioning of T lymphocytes, which play a central role in the immune system. Since the genomes of mice and humans are very similar, it is likely that we will be able to identify a human counterpart to the Nessy gene.Read moreRead less
Systematic Revision Of The Australian Fishes Of The Family Pomadasyidae
Funder
Fisheries Research and Development Corporation
Summary
Objectives: 1. Study the fishes of the family Pomadasyidae in the scientific collection of the Australian Museum Sydney & the National Museum Melbourne
I aim to decipher the role of heritable, genetic DNA variation in human neurological disease. I will use next generation genomics technologies together with sophisticated cellular models to address the important questions of the biology of epilepsy and intellectual disability in particular. I aim to develop a treatment for a specific type of epilepsy, which affects only girls from the age of 6 months. My ultimate goal is to improve the life of the patients and their relatives.
The development of the Fishnames project has been an ongoing concern for industry and the Fisheries Research Development Corporation.
The terms of reference (ToR) have been developed and wll be provided to workshop participants for consideration and feedback. The ToR include:
1) Report that details recommended changes to the objectives of the Fishnames process.
2) Changes to the Fishnames process.
3) The composition of the Fishnames committee.
4) Brie ....The development of the Fishnames project has been an ongoing concern for industry and the Fisheries Research Development Corporation.
The terms of reference (ToR) have been developed and wll be provided to workshop participants for consideration and feedback. The ToR include:
1) Report that details recommended changes to the objectives of the Fishnames process.
2) Changes to the Fishnames process.
3) The composition of the Fishnames committee.
4) Brief ‘user friendly’ summary of the project and outcomes suitable for publication on the FRDC website. Objectives: 1. Recommend changes to the objectives of the Fishnames process. 2. Chang to the Fishnames process. 3. The composition of the Fishnames committee. 4. A brief ‘user friendly’ summary of the project and outcomes suitable for publication on the FRDC website Read moreRead less
Fainting (syncope) is a common disorder leading to blackouts, which can cause injury. Breath-holding is a related problem in younger children also resulting in blackouts. Both of these conditions can run in families but little is known about what causes these events. We will study large families to identify the genes underlying these common phenomena. This will deepen our understanding of patterns of inheritance, improve genetic counseling, and lead to better diagnostic and treatment options.
Optimisation Of Salmonella Genotyping And Epidemiological Data Analysis For Detection And Investigation Of Outbreaks
Funder
National Health and Medical Research Council
Funding Amount
$508,051.00
Summary
Bacteria known as salmonella are the most important causes of food-borne diarrhoeal disease. They occasionally cause potentially fatal septicaemia, especially in young children and people with underlying disease. We estimate that more than 80,000 cases of salmonella infection occur in Australia, each year, at a cost to the community of $37 million. Salmonella are divided into more than 2000 different types, but one - called Typhimurium - causes about 40% of infections and a few others cause most ....Bacteria known as salmonella are the most important causes of food-borne diarrhoeal disease. They occasionally cause potentially fatal septicaemia, especially in young children and people with underlying disease. We estimate that more than 80,000 cases of salmonella infection occur in Australia, each year, at a cost to the community of $37 million. Salmonella are divided into more than 2000 different types, but one - called Typhimurium - causes about 40% of infections and a few others cause most of the rest. This means that is difficult to distinguish cases of salmonella infection that have originated from one source (an outbreak) from cases that have originated from another. Without this information, is it hard to track the source, which is usually inadequately cooked meat or chicken another food that has been contaminated with salmonella after preparation. There are several existing methods for fingerprinting salmonella, but they are quite slow or do not distinguish different strains well enough to identify outbreaks quickly. This means that sources of contaminated food are often not identified in time to prevent more cases occurring. We aim to develop a faster and more discriminatory system for fingerprinting salmonella, based on novel technology that can identify many small genetic sequences that occur in different combinations in different strains. As well, we will develop electronic scanning tools that will link the fingerprints of the salmonella strains with information about the people infected with them, such as the types of food and places where they have eaten, to identify patterns or clusters that indicate a common source. The more rapidly this can be done the sooner the source of contaminated food can be found and eliminated and additional cases can be prevented. This has important implications for public health - it will increase food safety and reduce illness and economic loss.Read moreRead less