Identification Of Protein Altering Variants Influencing Preeclampsia Risk
Funder
National Health and Medical Research Council
Funding Amount
$572,014.00
Summary
Preeclampsia is a common and serious pregnancy disorder for which there is currently no early diagnostic test or cure other than delivery. It is also associated with later life cardiovascular disease. The identification of gene mutations for preeclampsia in this study will provide insight into the cause of this disorder that may lead to new treatments and tests to predict those women at risk.
Investigating Genetic Determinants Of Absence Epilepsy In A Polygenic Rat Model
Funder
National Health and Medical Research Council
Funding Amount
$458,481.00
Summary
The underlying genetic causes of idiopathic generalised epilepsies (IGE) are still largely unknown. In an animal model of IGE we have discovered novel genetic abnormalities an ion channel. This proposal will build upon these novel findings to examine the role these abnormalities have in determining the absence epilepsy phenotype and this work has the potential to provide vital information regarding the mechanisms by which this gene contributes to an IGE seizure phenotype.
A Genomic Basis For Cerebral Palsy - Studies On A Large Australian Cohort
Funder
National Health and Medical Research Council
Funding Amount
$518,305.00
Summary
Cerebral Palsy (CP) is the commonest neurological disability in children, affecting 1 in every 500 children. This research will investigate genetic causes of CP by testing families with and without CP for a range of genetic alterations that change fetal protection to inflammation with resultant brain damage and CP. Research in to the causes of CP will allow prevention strategies to be developed, to ultimately reduce social and financial costs of CP for the patient, their family and the community ....Cerebral Palsy (CP) is the commonest neurological disability in children, affecting 1 in every 500 children. This research will investigate genetic causes of CP by testing families with and without CP for a range of genetic alterations that change fetal protection to inflammation with resultant brain damage and CP. Research in to the causes of CP will allow prevention strategies to be developed, to ultimately reduce social and financial costs of CP for the patient, their family and the community.Read moreRead less
New High-risk Variants For Colorectal Cancer: The Post-GWAS Era
Funder
National Health and Medical Research Council
Funding Amount
$710,105.00
Summary
Our aim is to discover new genes that greatly increase bowel cancer risk. If we can identify these carriers we may be able to prevent them getting cancer. By studying DNA related to bowel cancer, using a novel family design, we will identify families most likely to carry the new genes. We will focus genetic testing, using new techniques, to look for mutations in these prioritised families. Identified mutations will be tested in a 3,500 bowel cancer cases to see how important they are.
A Whole Genome Association Study For Determinants Of Clinical Outcome And Treatment Response In Chronic Hepatitis C
Funder
National Health and Medical Research Council
Funding Amount
$360,133.00
Summary
Chronic hepatitis C infection (CHC) causes liver failure, liver cancer and death. The treatment response rate is poor. Understanding of the factors that increase an individual’s risk of developing serious liver disease, or that lead to treatment failure, is limited. This project, the first of its kind, will involve screening 1600 CHC patients for genes that are associated with disease outcome and treatment response, to identify novel targets for drug and vaccine development
Mitochondrial Function And The Role Of PGC-1a In Parkinson�s Disease
Funder
National Health and Medical Research Council
Funding Amount
$113,322.00
Summary
Parkinson's Disease is the second most common neurodegenerative disease in Australia. Insights into the mechanisms causing Parkinson's disease may lead to therapeutic advances. This project will examine PGC-1a, a co-factor involved in the regulation of cellular energy metabolism, and examine it's role in the development of neuro-degeneration in Parkinson's disease. We aim to provide further understanding of cellular function in Parkinson's disease, and assist in therapeutic trials in neuro-degen ....Parkinson's Disease is the second most common neurodegenerative disease in Australia. Insights into the mechanisms causing Parkinson's disease may lead to therapeutic advances. This project will examine PGC-1a, a co-factor involved in the regulation of cellular energy metabolism, and examine it's role in the development of neuro-degeneration in Parkinson's disease. We aim to provide further understanding of cellular function in Parkinson's disease, and assist in therapeutic trials in neuro-degeneration.Read moreRead less
Individualisation Of Immunosuppressant Therapy In Renal Transplant Recipients.
Funder
National Health and Medical Research Council
Funding Amount
$113,496.00
Summary
People who undergo kidney transplantation require potent anti-rejection medications. Dosing is difficult. Two people given the same drug dose can have markedly different blood drug concentrations. If drug concentrations too low, there is an increased risk of rejection. If too high, there is an increased risk of drug side effects, infections and cancer. This study aims to find out why different people need different doses and to improve dosing methods, thereby improving patient outcomes.