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Exploiting SNP Data In Epidemiology And Genetics Through Multivariate Analysis Of Complex Traits
Funder
National Health and Medical Research Council
Funding Amount
$476,981.00
Summary
There is overlap in risk factors across multiple diseases, and some of that overlap is due to genetic factors. The availability of genome-wide DNA data on tens of thousands of patients for multiple diseases and healthy controls allows new questions to be asked and answered. For example, what is the overlap due to genes in disease risk for multiple sclerosis and rheumatoid arthritis? This project will develop and statistical genetic methodology to answer such questions and apply those methods to ....There is overlap in risk factors across multiple diseases, and some of that overlap is due to genetic factors. The availability of genome-wide DNA data on tens of thousands of patients for multiple diseases and healthy controls allows new questions to be asked and answered. For example, what is the overlap due to genes in disease risk for multiple sclerosis and rheumatoid arthritis? This project will develop and statistical genetic methodology to answer such questions and apply those methods to a range of important diseases.Read moreRead less
Identification Of Biomarkers Predictive Of Response To Bevacizumab In Patients With Glioblastoma Multiforme
Funder
National Health and Medical Research Council
Funding Amount
$32,628.00
Summary
Despite multimodality therapy, the median survival for patients diagnosed with high grade malignant brain tumours is only 12 months. Patient response to therapy is highly variable. Our aim is to develop a “genetic signature” that will predict response to bevacuzimab (an agent targeting blood vessel formation). Identifying patients who will respond to bevacuzimab will save many patients from a toxic and costly therapy, from which they will derive little benefit.
Genomic Medicine: Predictors Of Refractory Ulcerative Colitis And Its Response To Treatment
Funder
National Health and Medical Research Council
Funding Amount
$879,048.00
Summary
Ulcerative colitis (UC) is a major form of inflammatory bowel disease, affecting over 35,000 Australians. Symptoms include bleeding from the anus, tummy pain, and diarrhoea. There is a 1 in 4 risk of needing major surgery for UC. Our study will use current genetic techniques to classify patients according to the severity of their colitis, and their response to treatments. This will allow clinicians to personalize medical treatment far more effectively from the outset of a patients’ disease.
Towards A Diagnostic Test For Juvenile Idiopathic Arthritis
Funder
National Health and Medical Research Council
Funding Amount
$661,670.00
Summary
Childhood arthritis is an autoimmune disease that affects around 6000 Australian children. It can be difficult to diagnose, but quick diagnosis is important to prevent ongoing pain and limit long term damage to joints. We have been able to use genetic information to predict which people have autoimmune celiac disease. In this project, we will find out how well genetic information can predict which children have childhood arthritis, and whether genetics can be used as a diagnostic test.
20% of transplanted kidneys undergo rejection. This can permanently damage or destroy the transplant. Presently, rejection is identified when the kidney function deteriorates. This can occur late after rejection has started. To confirm the diagnosis of rejection, an invasive biopsy associated with discomfort and risks is required. This study will evaluate the use of a simpler blood test to monitor for rejection, allowing earlier and safer identification and treatment.
Applying Next Generation Sequencing To Family Studies
Funder
National Health and Medical Research Council
Funding Amount
$182,622.00
Summary
Recent advances in technology can determine the DNA composition of a person for much longer stretches of DNA, at a much cheaper cost. I use statistical analysis to identify regions of the human genome that harbour mutations that cause diseases such as epilepsy in families. These regions contain 5-15 million base pairs. We need to find the ONE base pair that causes disease. This application deals with the development of new tools to exploit new technology for the identification of mutations.
Biomarkers, Related Mechanisms And Technology To Improve Diabetes Outcomes
Funder
National Health and Medical Research Council
Funding Amount
$474,513.00
Summary
Diabetes can cause eye, kidney, heart and nerve damage. The applicant will lead human studies of treatments to prevent complications, improve blood glucose and co-ordinate care. Early outcome prediction would enable better treatment of high-risk people, monitoring of therapy, and development of new treatments. Dr Jenkins also has a network with data and samples from over 35,000 people with diabetes, preliminary data, and a team to measure markers and test new treatments in the lab.
GADD45A Promoter Methylation And Poor Prognosis In AML:mechanism And Clinical Significance
Funder
National Health and Medical Research Council
Funding Amount
$706,280.00
Summary
DNA methylation associated with the GADD45A gene defines an AML patient group with poor overall survival and limited treatment options. We will investigate the significance of this modification for the response of AML cells to chemotherapy and dissect the mechanism associated with this event. To translate these findings into the clinic we will test whether these patients are responsive to new agents targeting DNA methylation, and investigate survival of patients in a large independent cohort
DNA Barcoding Of Pathogenic Fungi As The Basis For The Development Of Novel Standardized Diagnostic Tools
Funder
National Health and Medical Research Council
Funding Amount
$560,398.00
Summary
Fungal infections are increasing and have major health impacts, with a high economic burden. Timely initiation of therapy is the key to improve patient outcomes. However, reliable identification tools for fungal pathogens are lacking. We will use comparative genome analysis to develop unique fungal signatures (DNA barcodes) and establish an online database to allow for rapid identification for diagnosis in the clinical setting and as a quarantine tool for border protection.