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
Nanoelectromechanical Mass Spectrometry with Molecular Imaging. This project aims to develop new technology to enable simultaneous measurement of the mass and conformation of single molecules. Mass spectrometry and high-resolution microscopy are independent analytical tools used widely to characterise the chemical and physical properties of molecules. This project aims to develop new technology based on advanced nanoelectromechanical systems that combines the capabilities of these complementary ....Nanoelectromechanical Mass Spectrometry with Molecular Imaging. This project aims to develop new technology to enable simultaneous measurement of the mass and conformation of single molecules. Mass spectrometry and high-resolution microscopy are independent analytical tools used widely to characterise the chemical and physical properties of molecules. This project aims to develop new technology based on advanced nanoelectromechanical systems that combines the capabilities of these complementary instruments. This would enable synchronous measurement of molecular mass and conformation with nanometre resolution. In contrast to current mass spectrometry, this technology could be operated in fluid and detect neutral species. This significant change in capability could be applied to advance biological and medical research.Read moreRead less
Industrial Transformation Training Centres - Grant ID: IC220100035
Funder
Australian Research Council
Funding Amount
$4,958,927.00
Summary
ARC Training Centre for Hyphenated Analytical Separation Technologies . The toughest analytical science challenges typically require advanced analytical technologies to acquire the desired solutions. In the field of separation science this inevitably involves hyphenated separation technologies, specifically the combination of chromatography and mass spectrometry. Advancing this technology to its full capability requires the collaborative strength of academic, industry and end-user partnerships, ....ARC Training Centre for Hyphenated Analytical Separation Technologies . The toughest analytical science challenges typically require advanced analytical technologies to acquire the desired solutions. In the field of separation science this inevitably involves hyphenated separation technologies, specifically the combination of chromatography and mass spectrometry. Advancing this technology to its full capability requires the collaborative strength of academic, industry and end-user partnerships, providing the materials and inspiration for young researchers to apply novel hyphenated methods to complex environmental and industrial systems. This Centre will deliver fundamental developments in hyphenated technologies, new analytical capability, and applied outcomes across multiple end-user groups and interests. 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