Statistical Methods For Identifying Structural Variation In Tumour Genomes Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$243,458.00
Summary
New DNA sequencing technology can sequence a tumour genome affordably in 2 weeks. This re-sequencing data can be used to find small mutations and large-scale chromosomal rearrangements that together are the drivers of cancer. These may one day be used to guide cancer therapy. This project will develop new algorithms for finding mutations and apply these to discover the genetic basis of drug resistance in a model lymphoma system.
Detection Of Somatic Mutations In Sporadic Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$1,256,166.00
Summary
Finding genetic causes of epilepsies is essential for refining treatments and genetic counseling. Genetic mutations may occur after fertilization (somatic mutations). These can be difficult to detect by routine genetic tests. We aim to identify somatic mutations by: very deep sequencing of blood to find low concentrations of mutations, analysing DNA from the cerebrospinal fluid, and analysing DNA obtained from the back of the nose which is closely related to brain tissue.
A Worldwide Study Of Cancer Risk For Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$710,761.00
Summary
People with the genetic Lynch syndrome are more likely to get cancer but we cannot accurately predict who will get cancer and when. Doctors need this information to improve cancer prevention. Large collaborative studies are needed for this research. We have agreement from the 115 researchers to combine, into a single resource, 8,863 family trees of Lynch syndrome. We will analyse this data to determine the risk of cancer and whether it differs by sex, age, or nationality.
The glomerulus is the filtering component of the kidney. In many diseases, it can be the target of an inappropriate inflammatory response. As part of this response, white blood cells accumulate in the glomerulus where they cause damage. The aim of the project is to determine how these white blood cells accumulate in the glomerulus, specifically asking the question, what molecules present on the white blood cells and the glomerular blood vessels are required for this accumulation?
A Functional Assay To Classify Genetic Variants In Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$368,195.00
Summary
At least one person in every 1000 is affected by Lynch syndrome, in which faulty DNA repair machinery causes high rates of cancer. People with Lynch syndrome can have their risk of cancer cut substantially with regular screening. However, we often struggle to understand whether people with 'non-standard' DNA sequences in particular genes actually have Lynch syndrome. This project develops a simple test that will tell clinicians whether a given sequence change relates to Lynch syndrome or not.
Expanding Diagnostic Approaches For Lynch Syndrome
Funder
National Health and Medical Research Council
Funding Amount
$1,269,355.00
Summary
Currently, there are ~1,000 families who have attended Family Cancer Clinics across Australia who have the hallmarks of having Lynch syndrome, a hereditary bowel cancer syndrome, but who have no gene defect identified, i.e. their cancer is unexplained. Clinicians are challenged by these “Lynch-like” patients as their family cancer risk is unknown. Our research has identified new gene defects in Lynch-like patients. Our aim is to optimise clinical testing approaches for Lynch-like patients.
Linkage Infrastructure, Equipment And Facilities - Grant ID: LE100100108
Funder
Australian Research Council
Funding Amount
$175,000.00
Summary
Ultra-high frequency non-contact vibrometry equipment for biomicrofluidics metrology. This equipment will enable experimental vibration measurement up to an unprecedented one billion cycles per second of motion smaller than the width of a helium atom (20 femtometres). Understanding and harnessing the phenomena unique to this regime, especially very large accelerations surpassing one billion times the acceleration of gravity, will enable the development of rapid protein crystallisation techniques ....Ultra-high frequency non-contact vibrometry equipment for biomicrofluidics metrology. This equipment will enable experimental vibration measurement up to an unprecedented one billion cycles per second of motion smaller than the width of a helium atom (20 femtometres). Understanding and harnessing the phenomena unique to this regime, especially very large accelerations surpassing one billion times the acceleration of gravity, will enable the development of rapid protein crystallisation techniques and constant-temperature organic chemical reaction enhancement for rapid development of new drugs, new devices for measuring the profile of surfaces at video speeds (videoAFM), new micro- and nano-devices for fluid pumping, mixing, colloidal separation and concentration, and new autonomous nanorobots for non-invasive microsurgery.Read moreRead less
Enhancing Selectivity and Detection in Miniaturised Analytical Separation Systems. Miniaturisation-compatible stationary phases and detection techniques will be developed for microseparation techniques of capillary electrochromatography and chip-based separation systems, and their analytical applications will be investigated. Replaceable stationary phases (RSP) of chromatographic particles suspended in reversible gels will be created by delivering a liquid RSP to the column followed by in situ ....Enhancing Selectivity and Detection in Miniaturised Analytical Separation Systems. Miniaturisation-compatible stationary phases and detection techniques will be developed for microseparation techniques of capillary electrochromatography and chip-based separation systems, and their analytical applications will be investigated. Replaceable stationary phases (RSP) of chromatographic particles suspended in reversible gels will be created by delivering a liquid RSP to the column followed by in situ immobilisation. This approach offers flexibility in optimising a number of parameters of the column and of its use for sample pre-treatment and preconcentration. Pulsed potentiometric detection will be developed for the abovementioned microseparation techniques, combining the advantages of pulsed amperometric techniques with the more universally responding potentiometric detection.Read moreRead less
Discovery of Novel Respiratory Viruses Causing Influenza-Like Illness in Healthy Australian Adults Aged 18 to 64 Years. This work will inform our understanding of the causes of acute respiratory illnesses in Australia at the present time by looking for both known and previously undiscovered respiratory viruses. Increasing the knowledge base regarding causes of disease will have downstream relevance for health policy planners seeking to assess the burden of disease due to different causes. Early ....Discovery of Novel Respiratory Viruses Causing Influenza-Like Illness in Healthy Australian Adults Aged 18 to 64 Years. This work will inform our understanding of the causes of acute respiratory illnesses in Australia at the present time by looking for both known and previously undiscovered respiratory viruses. Increasing the knowledge base regarding causes of disease will have downstream relevance for health policy planners seeking to assess the burden of disease due to different causes. Early identification and description of new diseases will allow pre-emptive evaluation of new public health threats. This information will help to ensure availability and marketability of vaccines to prevent infection.Read moreRead less
Rational lateral-bracing design for steel-framed domestic structures. For the 150,000 new Australian houses built annually to remain safe, despite expected increases in structural loading due to climate change, rational design approaches are desperately needed. This project will provide the industry with the necessary tools to develop optimised and innovative solutions to brace houses for extreme events and yet maintain affordability.