Molecular Genetics Of Hereditary Motor And Sensory Neuropathy With Pyramidal Signs
Funder
National Health and Medical Research Council
Funding Amount
$235,500.00
Summary
This project aims to determine the molecular cause of hereditary motor neuropathies with pyramidal signs by chromosomal linkage studies and to screen suitable families to locate genes with disease causing mutations. We propose to use the resources of the human genome project to locate the defective gene. In previous studies we have used these methods to identify genes of two other hereditary diseases of nerve. Our data suggests that this disorder forms part of the largest group of hereditary neu ....This project aims to determine the molecular cause of hereditary motor neuropathies with pyramidal signs by chromosomal linkage studies and to screen suitable families to locate genes with disease causing mutations. We propose to use the resources of the human genome project to locate the defective gene. In previous studies we have used these methods to identify genes of two other hereditary diseases of nerve. Our data suggests that this disorder forms part of the largest group of hereditary neuropathies yet to be defined. Because this disorder affects long spinal cord neurones, identifying the mutated gene and studying its function may shed light on possible mechanisms involved in other spinal cord diseases. This research is a systematic search and should lead to identifying the abnormal gene causing disease. Once the gene involved is known then an effective diagnostic test will be developed. When a test for the disease is available, it is likely that we will find that the disorder is more common than previously recognised. Knowledge of the function of the gene will lead to an understanding of how the disease develops and will eventually enable development of effective treatments.Read moreRead less
Molecular Diagnosis And Therapy Of Autoimmune Disease Using Translational And Reverse Translational Approaches
Funder
National Health and Medical Research Council
Funding Amount
$2,331,372.00
Summary
We plan to translate our recent discoveries on human gene variants and molecules produced by immune cells (follicular T cells) into effective therapies for autoimmune diseases. This will involve understanding the mechanisms by which the genes and molecules regulate immune tolerance, stratifying patients with autoimmune disease using newly identified biomarkers, trialling existing biologicals according to affected molecular pathway, and taking novel targets through to commercialisation.
I am an immunologist determining the development and function of the dendritic cell system, including its role in autoimmunity and resistance to infection.
When Prometheus Needs A Hand – How Human Amnion Epithelial Cells Resolve Fibrosis And Regenerate The Liver
Funder
National Health and Medical Research Council
Funding Amount
$530,653.00
Summary
Cirrhosis can progress to end stage disease for which transplantation provides the only hope for survival. Liver donors in Australia are scarce; the need for donor organs is increasing. Using stem cells to repair and regenerate damaged liver may provide an alternative to organ transplantation. We are studying placental stem cells that can decrease inflammation and increase progenitor cells to repair and regenerate liver. Our goal is to use these stem cells as treatment for human liver disease
Identification Of Molecular And Cellular Pathways Predicting Susceptibility Or Resistance To Severe Dengue Fever
Funder
National Health and Medical Research Council
Funding Amount
$761,481.00
Summary
This cooperative research project aims to undertake a comprehensive immunological and molecular analysis of individuals with mild versus severe dengue fever recruited at local hospitals in Jakarta, Indonesia. The project will uncover key processes responsible for the development of severe disease. This information will identify specific biomarkers for innovative diagnostic tools for early prediction/detection of cases that will progress to complicated dengue.