The Landscape Of Cancer Genes And Associations With Prognosis In Breast Cancer Diagnosed In Premenopausal Women
Funder
National Health and Medical Research Council
Funding Amount
$700,512.00
Summary
Using state of the art technology, the purpose of this project is understand the implications of known cancer mutations in breast cancer diagnosed in premenopausal ER-positive breast cancer. Mutations are abnormalities in the DNA of genes that can provide a signal for uncontrolled growth, a hallmark of cancer. The unique aspect of this project is use of tissue samples from patients who were diagnosed with breast cancer at a young age. This information will help us develop new treatments.
Clonal Evolution In Myelodysplasia And Acute Myeloid Leukaemia Following Azacitidine
Funder
National Health and Medical Research Council
Funding Amount
$853,005.00
Summary
The myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) represent a spectrum of clinically heterogeneous malignancies that remain incurable in the vast majority of patients. Whilst the DNA mutations underpinning the initiation/maintenance of these malignancies are largely known we have little insight into how these mutations alter response to therapy. Using a range of sophisticated cutting edge technologies we will study how these DNA mutations evolve over the course of treatment.
MECHANISMS AND MARKERS OF TUBERCULOSIS TRANSMISSION WITHIN AUSTRALIA
Funder
National Health and Medical Research Council
Funding Amount
$799,978.00
Summary
Tuberculosis (TB) kills nearly 2 million people each year. The emergence of drug resistant TB in the Asia-Pacific region poses a particular threat to Australia, due to frequent population mixing and ongoing TB transmission that may facilitate its spread within vulnerable communities. The proposed study will develop advanced tools to monitor and limit TB transmission within Australia. It will also provide novel insight into the evolution of the global TB epidemic and key factors that sustain it.
A Universal Clinical Test For Gene Fusions In Blood Cancer
Funder
National Health and Medical Research Council
Funding Amount
$628,001.00
Summary
Mis-repair of broken chromosomes results in gene fusion and is a common feature of blood cancers. Current tests are only capable of detecting well-known gene fusions and are incapable of identifying new fusion events or fusion variations. We have developed a scientific technique, termed CaptureSeq, that can address these issues. We propose to use this technique as the foundation for a single clinical test for blood cancers, capable of detecting all possible fusion variations – known and unknown.
This study will address the idea that cancer commonly involves a genetic pathway that is normally used by stem cells to proliferate in an undifferentiated state. We have evidence to indicate that this system is active in cancer cells and believe this could explain how cancer cells manage to divide rapidly in a primitive state. This project may bring a new perspective to the study of malignant transformation and has the potential to reveal multiple new targets for cancer therapy.
High-throughput genetic assays are commonly used to study the molecular basis of disease and such technology requires sophisticated data analysis methods that account for significant biological and experimental complexity. Specialized methods will be developed in free public software that will greatly benefit future genetic profiling studies.
Clinical Utility And Cost-effectiveness Of Genome Sequencing For Refractory Epilepsy In Children And Adults: A Multicentre Randomised Controlled Trial
Funder
National Health and Medical Research Council
Funding Amount
$720,609.00
Summary
A large number of genomic variants have been found to underpin common types of epilepsy and to predict adverse drug reactions. However, the adoption of genomic testing in the routine management of epilepsy is hampered by uncertainties around its clinical utility and cost-effectiveness. This randomised controlled trial aims to determine the diagnostic efficiency, clinical and psychosocial impact, and cost-effectiveness of whole genome sequencing for refractory epilepsy in children and adults.
A Three-tiered Strategy To Prevent Destabilisation Of The Induced Pluripotent Stem Cell Genome By L1 Retrotransposition
Funder
National Health and Medical Research Council
Funding Amount
$708,707.00
Summary
Retrotransposons are mobile genes that copy-and-paste themselves in our genome. Previously thought to represent “junk DNA”, retrotransposons are increasingly recognised to play major roles in biology. In recent publications in Cell and Nature, we found that retrotransposons move in mature human cells. In the current study, we will determine whether the same activity occurs when these cells are reprogrammed to become stem cells, possibly impacting stem cell based therapies.
Harnessing Endogenous L1-mediated Mutagenesis To Elucidate New Candidate Genes For Liver Cancer
Funder
National Health and Medical Research Council
Funding Amount
$632,656.00
Summary
Retrotransposons are mobile genes that copy-and-paste themselves in our genome. Previously thought to represent “junk DNA”, retrotransposons are increasingly recognised to play major roles in biology. In a recent publication in Cell, we found that retrotransposons were highly active in some types of liver cancer, mutating key genes required to block tumour formation. In the current study, we will determine in greater depth how, and how often, these genes are involved in other types of liver canc ....Retrotransposons are mobile genes that copy-and-paste themselves in our genome. Previously thought to represent “junk DNA”, retrotransposons are increasingly recognised to play major roles in biology. In a recent publication in Cell, we found that retrotransposons were highly active in some types of liver cancer, mutating key genes required to block tumour formation. In the current study, we will determine in greater depth how, and how often, these genes are involved in other types of liver cancer.Read moreRead less
Optimising Temporal Genomic Surveillance Of Salmonella Infections In Australia
Funder
National Health and Medical Research Council
Funding Amount
$763,447.00
Summary
Salmonella is a leading cause of the food-borne disease – salmonellosis. It is responsible for considerable morbidity and has an enormous economic cost. Molecular typing is the key to rapidly identify and control outbreaks. This project will optimise the use of whole genome sequencing for outbreak investigation and long term epidemiology. A surveillance system that integrates genome sequence and epidemiological data will be highly significant for outbreak investigation and disease prevention.