Multiple sclerosis (MS) is the most common neurological disease of young adults, with very high costs in loss of quality of life, reduced contribution of sufferers to the workplace, and in treatment. No cures exist and its cause is unknown. It is, however, known to be a largely genetic disease - but the genes associated with it have yet to be identified. An international consortium, known as GAMES (Genes Associated with Multiple Sclerosis) has now completed a screen of all human chromosomes usin ....Multiple sclerosis (MS) is the most common neurological disease of young adults, with very high costs in loss of quality of life, reduced contribution of sufferers to the workplace, and in treatment. No cures exist and its cause is unknown. It is, however, known to be a largely genetic disease - but the genes associated with it have yet to be identified. An international consortium, known as GAMES (Genes Associated with Multiple Sclerosis) has now completed a screen of all human chromosomes using 6000 markers to identify regions with genetic differences in multiple sclerosis patients. The Australian contribution to this study was funded by the NHMRC. This project is a continuation of the first, only moving on to fine-scale mapping of the regions identified in GAMES1, so that single genes, rather than genetic regions, are the focus for the study. It also aims to ensure Australian participation as an equal player in phase II of this major international collaboration. The Australian results will contribute to the overall study. If associations identified in single countries are found in other countries, this confirms the validity of the association. In addition, genes which are only slightly associated with disease in individual countries, may become more meaningful if they are found to be associated in the studies from other countries. In this way a sensitive and robust comparison of the genes which affect predisposition to MS will be identified and this information can be used to target molecular pathways for drug intervention.Read moreRead less
Cellular genomic approach to the pathogenesis of multiple sclerosis. This project compares the levels of gene usage in two important immune cell types between patients with multiple sclerosis and people who do not have the disease. It aims to identify the molecular basis for the disease, in order to identify new diagnostic, preventative and treatment options.
My research focuses on mechanisms of intestinal iron absorption and its regulation, with a particular emphasis on understanding human disorders where iron homeostasis is perturbed.
RARE-Bestpractices: Best Practices For Management Of Rare Diseases
Funder
National Health and Medical Research Council
Funding Amount
$640,231.00
Summary
Although by definition rare, over 8000 rare diseases affect approximately 1.2 million Australians. Patient care has suffered from fragmented approaches and lack of information available to health professionals. This project brings together major experts on rare diseases to improve the translation of scientific progress into tangible benefits for patients. The ultimate impact of this work will be the significant improvement of health outcomes and quality of life for rare disease patients and redu ....Although by definition rare, over 8000 rare diseases affect approximately 1.2 million Australians. Patient care has suffered from fragmented approaches and lack of information available to health professionals. This project brings together major experts on rare diseases to improve the translation of scientific progress into tangible benefits for patients. The ultimate impact of this work will be the significant improvement of health outcomes and quality of life for rare disease patients and reducing inequality in care.Read moreRead less
This proposal uses the zebra fish system, which it is uniquely suited to investigate the regulation of disease genes. In all of these diseases preliminary work has already been performed and screening assays have been developed in a previous project (ZF-MODELS). In addition, the project will investigate genetic abnormalities of the eye and visual processing, genetic pathways underlying tissue regeneration and repair, and homologs of human genes related to diabetes and obesity, as well as infecti ....This proposal uses the zebra fish system, which it is uniquely suited to investigate the regulation of disease genes. In all of these diseases preliminary work has already been performed and screening assays have been developed in a previous project (ZF-MODELS). In addition, the project will investigate genetic abnormalities of the eye and visual processing, genetic pathways underlying tissue regeneration and repair, and homologs of human genes related to diabetes and obesity, as well as infectious disease and cancer. The Australian component will perform a systematic characterisation of enhancer elements of potential disease genes. This characterisation will build on the concept of genomic regulatory blocks (GRBs) which contain highly conserved non-coding elements (HCNEs) acting as long-range enhancers of developmental genes (recently discovered by T. Becker in the ZF-MODELS project).Read moreRead less