Diagnosis Of Inherited Genetic Disorders Using DNA Reference Standards
Funder
National Health and Medical Research Council
Funding Amount
$690,820.00
Summary
Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.
Stress-induced Genomic Instability As A Driver Of Adaptive Responses In Human Cancer Cells
Funder
National Health and Medical Research Council
Funding Amount
$690,426.00
Summary
Growing experimental evidence suggests human cancer cells use evolutionary conserved programs to regulate their mutation rates in response to pharmacological agents, accelerating adaptation and the emergence of resistance. The purpose of our study is to identify the common molecular pathways and genetic mechanisms driving the regulation of mutation rates. Targeting of these pathways using a new generation of “anti-evolution” drugs is an attractive possibility for novel therapeutic approaches.
An Indigenous Australian Reference Genome: Indigenous Inclusion In The Benefits Of Genomic Medicine
Funder
National Health and Medical Research Council
Funding Amount
$1,428,508.00
Summary
This project will establish an Indigenous Australian reference genome (the NCIGrg) within the National Centre for Indigenous Genomics (NCIG) using advanced genome sequencing technologies and data analytics and evaluate its research and clinical utility. The NCIGrg will be cornerstone of future genomic research and its clinical application in Indigenous communities. It will underpin NCIG’s commitment to ensuring that Indigenous Australians are included in the benefits of genomic medicine.
Defining The Role Of RNA Editing In Erythropoiesis
Funder
National Health and Medical Research Council
Funding Amount
$628,945.00
Summary
We are seeking to understand how red blood cells are produced. We have identified that a process called RNA editing may be important in the regulating the production of red blood cells.
Reactivities Of CD8 T Cells To Mutated Neo-antigens In Lung Malignancies
Funder
National Health and Medical Research Council
Funding Amount
$661,979.00
Summary
Tumours express mutated proteins (called ‘neo-antigens’) which can be targets of powerful killer T cells which can destroy cancer cells. To understand why these cells fail to cure most cancers we will study neo-antigens identified by modern DNA sequencing methods to identify these neo-antigens & the responses to them. Then it will be possible to design trials in individual patients, e.g. personalised vaccines to ‘force’ the immune system to attack cells bearing these neo-antigens.
Cerebral Palsy (CP) is a devastating, common developmental brain disorder once assumed to be due to lack of oxygen at birth. Using our unique Biobank with DNA and clinical data from families with a CP child, we are examining the genetic origins of CP and how genes and risk factors in pregnancy contribute. We will use computer modelling and testing in animals and brain cells, to understand causes of CP and devise predictive, preventative and therapeutic strategies.
Understanding The Impact Of Epigenetic Gene Regulation On Helicobacter Pylori Persistence And Pathogenesis.
Funder
National Health and Medical Research Council
Funding Amount
$757,896.00
Summary
Helicobacter pylori is a highly persistent pathogen and remains a significant problem worldwide, causing gastritis, peptic ulcer disease and gastric cancer. This project will increase our understanding of how H. pylori infection persists for the life of its human host and will provide knowledge that is critical in developing new strategies for preventing these infections.
How Do Cross-reactive Memory B Cells Affect Influenza Vaccine Titers?
Funder
National Health and Medical Research Council
Funding Amount
$798,049.00
Summary
Influenza vaccines are updated frequently to protect against the highly variable influenza virus. Despite careful selection of vaccine viruses, most influenza vaccines provide only modest protection and protection is poor some years. In turn, the response to vaccination varies between individuals. This probably reflects complex and variable histories of influenza infection and vaccination. The project investigates how past influenza exposure influences vaccine responses and effectiveness.
Genetic Analysis Of De Novo And Inherited Exome Variation In Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$1,351,522.00
Summary
Schizophrenia (SCZ) is a severe mental disorder affecting ~1% of the world’s population. The majority of risk is explained by genetic factors, and thus identifying susceptibility genes may lead to the development of novel therapeutics and personalised treatments. We will join forces with international collaborators to perform the largest DNA sequencing analysis of de novo and inherited protein-coding sequence variation in SCZ to date. We aim to identify key risk genes and genetic pathways.
All cells in the body need to get their energy from somewhere, and the chemical basis of their energy supply varies depends on many factors, including their location and rate of cell division. We have found that an important population of white blood cells that control the character and magnitude of most immune responses appear to use an unusual source of their energy. If true this would provide a range of new opportunities to control the numbers and activities of these cells, a thereby control ....All cells in the body need to get their energy from somewhere, and the chemical basis of their energy supply varies depends on many factors, including their location and rate of cell division. We have found that an important population of white blood cells that control the character and magnitude of most immune responses appear to use an unusual source of their energy. If true this would provide a range of new opportunities to control the numbers and activities of these cells, a thereby control the character and magnitude of immune responses.Read moreRead less