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.
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.
Islands of rocks: geckos as a model system to understand patterns of biodiversity, endemism and speciation in the Kimberley. Australia is renowned for its diversity of lizards, yet a plethora of new "cryptic" gecko species continue to be discovered. The project will densely sample the complex Kimberley to understand the evolution of its geckos, which will shed light on true levels of species diversity and the geological and environmental history of this biodiversity hotspot.
Discovery Early Career Researcher Award - Grant ID: DE180100629
Funder
Australian Research Council
Funding Amount
$365,058.00
Summary
Evolutionary impacts of climate change in Australia’s fossil record. This project aims to identify evolutionary responses to climate change in Australia's fossil record by comparing variation in lizard and frog communities across geological time. Using X-ray techniques on museum specimens, this project will generate a large-scale database for tracking evolutionary shifts in relation to historical climatic events. Expected outcomes include the first anatomical descriptions for many species, filli ....Evolutionary impacts of climate change in Australia’s fossil record. This project aims to identify evolutionary responses to climate change in Australia's fossil record by comparing variation in lizard and frog communities across geological time. Using X-ray techniques on museum specimens, this project will generate a large-scale database for tracking evolutionary shifts in relation to historical climatic events. Expected outcomes include the first anatomical descriptions for many species, filling major gaps in our ability to place fossils in a contemporary framework. This research will demonstrate the value of our national collections for addressing important environmental issues, such as biodiversity, extinction, and future habitat change.Read moreRead less