Identifying Rare Genetic Variants Conferring Susceptibility To Multiple Sclerosis
Funder
National Health and Medical Research Council
Funding Amount
$293,898.00
Summary
Recently there has been success in identifying common genetic variants that confer susceptibility to multiple sclerosis. The variants that have been discovered so far have modest effects on risk of disease, and only explain a small proportion of familial aggregation of disease. In this study we aim to identify rarer genetic variants that have stronger effects on risk of disease, using new statistical methods and new methods to sequence very large amounts of DNA.
Systematic And Sensitized Screens For Novel Genes That Regulate The Neural Differentiation Of Mouse Embryonic Stem Cells
Funder
National Health and Medical Research Council
Funding Amount
$360,634.00
Summary
Embryonic stem (ES) cells are cells in the embryo that can transform into any cell type. Genes that direct mouse ES cells to transform into cells of the nervous system will be uncovered by selecting a group of likely suspects, and disrupting the DNA sequences of these genes to see whether neural differentiation occurs normally in their absence. The effects of the gene disruptions will be examined in the developing neural system of the mouse embryo.
Identification Of Novel Therapeutic Binding Sites On Glycine Receptors By High Throughput Screening
Funder
National Health and Medical Research Council
Funding Amount
$542,017.00
Summary
Glycine receptors mediate inhibitory neurotransmission in the nervous system. They provide fresh therapeutic targets for chronic inflammatory pain and muscle spasticity. Here we identify 5 compounds that may be appropriate as leads for discovering novel therapies for these disorders. We will use automated high throughput screening methods to discover how these drugs interact with the receptor. This will narrow down the search for the next generation of analgesic and muscle relaxant drugs.
Our centre combines clinical and laboratory expertise to tackle autoimmune, inflammatory, and immune deficiency diseases. Starting from a genetic discovery platform, we aim to understand precisely how the immune system goes wrong in each individual patient to cause disease. This approach will make diagnoses more accurate and tailor treatment to each patient. The centre's approach should provide a template for the implementation of genomics and personalized medicine into routine clinical practice
Understanding Gene Regulation In Disease Using High Throughput Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
While genetics refers to the gene sequence, or DNA code, epigenetics refers to all the other factors that control how and when each gene is expressed. New technologies with the ability to sequencing billions of bases of DNA are now being used to study epigenetics. However the data sets are vast and complex. I use statistical and computational approaches in the emerging field of bioinformatics to make sense of this data and relate genome wide disruption of epigenetic marks to diseases.
The Landscape Of Cancer Genes And Associations With Prognosis In Breast Cancer Diagnosed In Premenopausal Women
Funder
National Health and Medical Research Council
Funding Amount
$700,512.00
Summary
Using state of the art technology, the purpose of this project is understand the implications of known cancer mutations in breast cancer diagnosed in premenopausal ER-positive breast cancer. Mutations are abnormalities in the DNA of genes that can provide a signal for uncontrolled growth, a hallmark of cancer. The unique aspect of this project is use of tissue samples from patients who were diagnosed with breast cancer at a young age. This information will help us develop new treatments.
Diagnosing Hereditary Myopathies And Dystrophies With RNA Sequencing: Translating Research Innovations Into Diagnostic Practice
Funder
National Health and Medical Research Council
Funding Amount
$279,725.00
Summary
Despite recent advances in genetic testing, more than 50% of patients with hereditary neuromuscular disorders remain undiagnosed. This project aims to apply an alternative and the newest form of Next Generation Sequencing (NGS) testing strategy known as transciptome or RNA sequencing to clinical practice to further investigate patients who have remained undiagnosed despite WES and WGS.
GENETIC AND FUNCTIONAL CHARACTERISATION OF ERAP1 VARIANTS ASSOCIATED WITH ANKYLOSING SPONDYLITIS.
Funder
National Health and Medical Research Council
Funding Amount
$133,351.00
Summary
Ankylosing Spondylitis is a progressive arthritis which affects the back and causes the back joints to fuse. The project seeks to investigate the role of the ERAP1 protein and the gene which is the blueprint for the ERAP1 protein in causing Ankylosing Spondylitis. This will be through resequencing the gene, investigating the action of the different ERAP1 proteins and the effect of ERAP1 deficiency in mice.
Discovering The Cell Of Origin For Rare Ovarian Cancers
Funder
National Health and Medical Research Council
Funding Amount
$599,438.00
Summary
Ovarian cancer has many different varieties, and even though they all grow at the ovary, for some types we don't know the cell where the cancer starts. Using novel sequencing methods, this study will find the tissue of origin for two rare subtypes. This finding will help us to develop appropriate pre-clinical models that we can use to test emerging cancer therapies. Identifying the cell of origin will provide key insights into early detection or even prevention of these rare but deadly diseases.
Clonal Evolution In Myelodysplasia And Acute Myeloid Leukaemia Following Azacitidine
Funder
National Health and Medical Research Council
Funding Amount
$853,005.00
Summary
The myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) represent a spectrum of clinically heterogeneous malignancies that remain incurable in the vast majority of patients. Whilst the DNA mutations underpinning the initiation/maintenance of these malignancies are largely known we have little insight into how these mutations alter response to therapy. Using a range of sophisticated cutting edge technologies we will study how these DNA mutations evolve over the course of treatment.