Major Histocompatibility Complex (MHC) Genetics Of Ankylosing Spondylitis
Funder
National Health and Medical Research Council
Funding Amount
$568,612.00
Summary
Ankylosing spondylitis (AS) is the prototypic condition of a group of types of inflammatory arthritis called 'seronegative spondyloarthropathies'. These conditions are the most common form of inflammatory arthritis in white populations and occur worldwide. One third of the risk of developing AS is determined by genes within a region called the 'major histocompatibility complex' (MHC), in addition to the gene HLA-B27, the main gene causing AS. We aim to identify the remaining MHC genes.
The Immunogenetics Of Ankylosing Spondylitis: A Genetic And Functional Investigation Of IL23R And Related Genes
Funder
National Health and Medical Research Council
Funding Amount
$536,679.00
Summary
Ankylosing spondylitis (AS) is a common inflammatory arthritis which causes primarily back pain and stiffness, and affects 1-250 individuals. Our group identified association between tagging genetic markers in the gene IL23R and AS, and our preliminary data suggests some related genes are involved as well. This study aims to identify the key genetic variants involved and determine the mechanism by which they cause AS.
Localisation Of Genes For Multiple Sclerosis In The HLA Region
Funder
National Health and Medical Research Council
Funding Amount
$426,500.00
Summary
Multiple sclerosis (MS) is a disease that affects around 10,000 Australians. It is a disease of young adults with women being affected more often than men. While there are therapeutics available to treat it, these are very expensive ($10-12,000 per annum) and are effective in only a proportion of affected individuals. MS is governed by a complex interplay of environmental and genetic susceptibility factors, neither alone sufficient to cause disease, however, the study of these factors has been c ....Multiple sclerosis (MS) is a disease that affects around 10,000 Australians. It is a disease of young adults with women being affected more often than men. While there are therapeutics available to treat it, these are very expensive ($10-12,000 per annum) and are effective in only a proportion of affected individuals. MS is governed by a complex interplay of environmental and genetic susceptibility factors, neither alone sufficient to cause disease, however, the study of these factors has been confounded by the complex nature of the disease. We and other researchers have identified the human leukocyte antigen (HLA) complex on chromosome 6 as harbouring susceptibility genes for MS. Our recent work has localised these genes in two distinct regions of the HLA complex. In this project we plan to localise these genes more precisely to permit their identification. By identifying these genes we hope to develop an understanding of their function in a healthy person and in a person with MS. Understanding what goes wrong during disease is a critical first step along the track to the design of novel therapeutics. A successful therapeutic agent would be designed to interfere with disease processes and treat the disease more effectively.Read moreRead less
Characterisation Of Polymorphism In HIV-1 Sequence: Investigation Of Viral Escape From HLA-restricted Immune Responses
Funder
National Health and Medical Research Council
Funding Amount
$425,250.00
Summary
Although drug therapy has been developed for treatment of HIV infection, there are many aspects of optimal long-term therapy that are problematic. An important reason for this is that HIV disease is different in different individuals, and we believe this is in large part attributable to the way in which the virus can escape an individual's unique immune responses against it. HIV has been shown to escape by mutating and evolving during infection, but the nature and extent to which this occurs in ....Although drug therapy has been developed for treatment of HIV infection, there are many aspects of optimal long-term therapy that are problematic. An important reason for this is that HIV disease is different in different individuals, and we believe this is in large part attributable to the way in which the virus can escape an individual's unique immune responses against it. HIV has been shown to escape by mutating and evolving during infection, but the nature and extent to which this occurs in everyone is not established. This is an important barrier to the design of effective vaccines against HIV. This study uses a novel method to describe the ways that HIV evolves uniquely in every individual, and to determine how this information relates to subsequent disease severity, response to therapy and response to vaccination. This will allow HIV infected patients to have better 'individualised' therapy as well as help in the design of effective vaccines.Read moreRead less
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