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Mechanisms Of Gender Differences In Genetic Aortopathy
Funder
National Health and Medical Research Council
Funding Amount
$122,686.00
Summary
This project will investigate the molecular mechanisms that underly the gender differences in phenotypic expression in young adults with genetic aortopathy.
The Importance Of RUNX3 In Preventing Gastrointestinal Diseases And Tumour Metastasis
Funder
National Health and Medical Research Council
Funding Amount
$113,322.00
Summary
Stomach cancer is the second leading cause of cancer-related deaths. It is estimated that in 2010, more than 1 million people will die of stomach cancer with an increase of 19%. Studies have revealed that RUNX3 has the ability to suppress the growth of stomach cancer. However the role of RUNX3 in preventing metastasis is yet unknown. Therefore, an understanding of the factors that govern metastasis will inform the design of effective therapies to prevent mortality which is high for this disease.
Lung cancer is a leading cause of cancer death globally. Symptoms may not develop until disease is advanced, so it is often incurable at diagnosis. Scientific developments have greatly improved our ability to test for the changes in DNA structure and function responsible for this deadly disease and its progression. This study examines whole lung cancer genomes then uses these findings to develop safer methods for detection based on changes in DNA sequence.
For Every Question, There Is An Answer: Application Of Genomic Sequencing And Functional Genomics For Disease Gene Discovery In Children With Orphan Phenotypes
Funder
National Health and Medical Research Council
Funding Amount
$99,682.00
Summary
My PhD study will look closely at the genes in a family to see what is different and whether this difference is the cause of rare health problems. I will focus on children with highly unique conditions in which intellectual disability/developmental delay is a key feature. My study is important because if I can find the exact cause of rare genetic conditions, then I hope to improve the welfare of patients and families affected by these types of conditions.
Mechanisms Of T Cell Mediated Injury In Renal Vasculitis
Funder
National Health and Medical Research Council
Funding Amount
$133,351.00
Summary
Anti-MPO glomerulonephritis (GN) is an aggressive disease causing severe and permanent injury to kidneys. This disease is thought to be due to an immune-mediated response to a protein (MPO) in neutrophils (a type of white blood cell). There is some evidence that other immune cells, CD4+ T cells, may be important in this disease. Experiments using models of anti-MPO GN will aim to define the role and mechanisms by which CD4+ T cells cause inflammation in the kidney.
Understanding Gene-environment Interactions In Relation To Risk Of Age-related Cataract
Funder
National Health and Medical Research Council
Funding Amount
$86,514.00
Summary
Age-related cataract is the clouding of the lens, a leading cause of visual impairment among older persons. The burden of this common eye disease will only increase as the population ages. Besides age, other environmental and genetic risk factors that increase the risk of cataract have been identified. The aim of this research is to examine how the interplay of genes and environment contributes to age-related cataract formation, using population-based data of established studies.
Epidemiological And Molecular Risk Factors For Diabetic Retinopathy Blindness.
Funder
National Health and Medical Research Council
Funding Amount
$61,988.00
Summary
Diabetic retinopathy (DR) is the leading cause of blindness in working age adults, affecting 30% of Australians with diabetes. Patients at most risk of blindness are the focus of this project. We aim to (1) investigate why some people are more likely to develop blinding DR by looking at genetic difference between diabetic patients with and without DR; and, (2) help to understand why Indigenous Australians are so over represented in this subset of diabetic patients going blind from DR.
The Use Of Next Generation Sequencing To Diagnose Neurogenetic Disease
Funder
National Health and Medical Research Council
Funding Amount
$55,689.00
Summary
For two groups of neurogenetic disease, leukodystrophy and polymicrogyria, the underlying genetic cause is not known for at least 50% of cases. In these cases, patients and their families do not have access to accurate genetic counselling, prognostic information or targeted therapeutics. This study will use new genetic technologies to identify the specific genetic causes underlying these diseases. These results will improve patient care and our understanding of the disease mechanisms.
Correction Of Friedreich Ataxia Induced Pluripotent Stem Cells By Non-viral Gene Therapy
Funder
National Health and Medical Research Council
Funding Amount
$63,270.00
Summary
Friedreich ataxia (FRDA) is an inherited progressive disorder of the nervous system and heart. Stem cell therapy has the potential to repair or replace damaged tissues and restore organ function in FRDA patients. The defect inherent in stem cells obtained from FRDA patients will be corrected by a gene therapy approach that will restore normal FRDA gene expression and addresses major safety concerns for the clinical use of corrected stem cells in transplantation medicine.