Development Of A Bioinformatic Tool For The Rapid Identification Of Candidate Disease Genes
Funder
National Health and Medical Research Council
Funding Amount
$436,367.00
Summary
Candidate disease gene prediction systems assist geneticists by using biological data to suggest genes likely to be causative of diseases in regions of the genome delineated by genetic studies. This area has been enabled by completion of the Human Genome Project and increased availability of high-throughput experimental data and sophisticated bioinformatic tools. Identification of disease genes will contribute to an understanding of disease, as well as its prevention, diagnosis, and treatment.
Using High-throughput Genomics To Reveal The Deleterious Genetic Changes That Underlie Paediatric Leukoencephalopathies
Funder
National Health and Medical Research Council
Funding Amount
$1,003,712.00
Summary
There has been an explosion of high-throughput DNA sequencing technologies in the past five years, which have the potential to completely revolutionise medicine and scientific research. Here we present a series of studies showing the successful application of this technology to children with genetic disorders of the central nervous system. This proposal seeks to expand this study to a large cohort of similarly affected paediatric patients.
Diagnosis Of Inherited Genetic Disorders Using DNA Reference Standards
Funder
National Health and Medical Research Council
Funding Amount
$690,820.00
Summary
Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.
A Study Of The Role Of Voltage-gated Potassium Channels In The Process Of Phototransduction, In The Setting Of Photoreceptor Sensitivity Levels And Response Times, And In The Progression Of A Distinctive Form Of Inherited Retinal Dystrophy
Funder
National Health and Medical Research Council
Funding Amount
$360,371.00
Summary
Inherited retinal disease is a major cause of blindness but the genetic basis is extremely heterogeneous. One such disorder, cone dystrophy with supernormal rod ERG, arises from mutations in KCNV2 that encodes a potassium voltage-gated channel protein. The objective of the project is to use animal models of the disease to determine the role of this channel protein in normal visual function and to assess the impact of loss of function on retinal development and function.
Defining The Leukaemogenic Mechanism For GATA2 T354M, A New Predisposing Mutation In Familial MDS/AML
Funder
National Health and Medical Research Council
Funding Amount
$631,883.00
Summary
A successful approach for identification of cancer genes has been to study the 5-10% of cases occurring in families with inherited predisposition to develop cancer. Unlike solid tumours, few cancer-causing mutations are known for haematological cancers. We have found a new mutation in 3 families in a gene (GATA2) not previously associated with familial acute myeloid leukaemia. We will explore how this mutation causes leukaemia to help better understand the more common non-inherited leukaemias.
Using Metagenomics To Determine The Causative Agent(s) Of Tick-Borne Disease In Australia
Funder
National Health and Medical Research Council
Funding Amount
$639,428.00
Summary
Tick-borne disease has emerged as a topical and controversial public health problem in Australia. We will employ state-of-the-art techniques in metagenomics to determine what microbial species (bacteria, viruses and eukaryotes) circulate in Australian ticks and whether these or different microbes are also present in humans diagnosed with tick-borne disease. The data generated will provide key information on whether tick-borne disease has a microbiological cause and, if so, the microbes involved.
Evolution Of Pertussis Epidemics And Effect Of Genotypes On Infection Outcomes And Immunisation
Funder
National Health and Medical Research Council
Funding Amount
$657,781.00
Summary
Pertussis, or whooping cough, is caused by Bordetella pertussis. Despite high vaccine coverage, the incidence of pertussis has increased substantially in recent years in Australia. One of the contributing factors is changes in the pertussis strains. This project will determine the genetic composition and virulence characteristics of epidemic strains in Australia and investigate the effect of these strains on disease severity and vulnerability of vaccinated individuals to infection.
Defining The Role Of Nlrp1 And The Inflammasome In Host Defence And Inflammatory Disease
Funder
National Health and Medical Research Council
Funding Amount
$634,459.00
Summary
The immune system protects the body from invading pathogens, but it can also attack the body causing inflammatory and autoimmune diseases like arthritis and multiple sclerosis. This project will focus on the molecular regulation of the ïinflammasomeÍ, a protein complex that senses invading pathogens and triggers the immune response. Understanding the inflammasome may hold the key to a better understanding of how the good and bad functions of the immune system can be balanced to prevent disease.
A Comparative Study Of The Pathophysiology Of Severe Knowlesi And Falciparum Malaria
Funder
National Health and Medical Research Council
Funding Amount
$660,293.00
Summary
Plasmodium knowlesi causes monkey malaria, but has recently been found to infect humans resulting in severe disease and death similar to Plasmodium falciparum. Clinical features of severe P. knowlesi and how it causes complications are poorly described and understanding this could improve treatment and outcomes. In patients with P. knowlesi, we want to describe the clinical features, the ability to cause severe disease, and measure 1) markers of platelet activation and 2) capillary obstruction a ....Plasmodium knowlesi causes monkey malaria, but has recently been found to infect humans resulting in severe disease and death similar to Plasmodium falciparum. Clinical features of severe P. knowlesi and how it causes complications are poorly described and understanding this could improve treatment and outcomes. In patients with P. knowlesi, we want to describe the clinical features, the ability to cause severe disease, and measure 1) markers of platelet activation and 2) capillary obstruction and red cell deformability,Read moreRead less
Economic Evaluation Of Alternative Pneumococcal Vaccination Strategies
Funder
National Health and Medical Research Council
Funding Amount
$242,894.00
Summary
Pneumococcal vaccination is a readily available preventive strategy that can offer substantial protection to the elderly but it is important that we carefully evaluate the different potential strategies to ensure the most (cost-) effective approach to prevention is identified. This grant will explore alternative strategies to control pneumococcal-related disease in elderly Australians using the available vaccines.