A Multi-site Randomised Controlled Trial Comparing The Severity Of Constipation Symptoms Experienced By Palliative Care Patients Receiving Usual Care Compared To Those Diagnosed And Managed According To The Underlying Pathophysiology.
Funder
National Health and Medical Research Council
Funding Amount
$498,795.00
Summary
This research aims to consider whether the problems of constipation in palliative care are less severe when the physical changes that underlie the problem are explored.
Defining The Role Of The Major Subsets Of Renal Mononuclear Phogocytes
Funder
National Health and Medical Research Council
Funding Amount
$614,227.00
Summary
Chronic Kidney Disease (CKD) is a major cause of death and morbidity in Australia, and currently therapeutic options are limited. Renal mononuclear phagocytes (rMP) are important immune cells which play a central role in health and disease of the kidney. However, rMP are a heterogenous group of cells with a poorly defined role in the development and progression of CKD. We will define the role of major subsets of rMP in CKD, and explore their potential for treating CKD.
Analysis Of Circulating Tumour DNA For Mutational Characterisation And Tracking Disease Progression In Multiple Myeloma
Funder
National Health and Medical Research Council
Funding Amount
$908,676.00
Summary
Multiple myeloma is cancer of plasma cells in the bone marrow and presents at multiple sites with dissimilar genetic information (GI) across these sites. Invasive biopsies of multiple sites are required to determine the GI. Cancer cells shed small amounts of DNA into the blood stream and this circulating DNA (ctDNA) contains GI from multiple cancer sites. This project will evaluate the utility of ctDNA to determine GI and to predict treatment response in MM patients.
Novel Bioinformatics Methods For Prioritizing Disease-causing INDELs
Funder
National Health and Medical Research Council
Funding Amount
$351,664.00
Summary
This project will build a bioinformatics diagnostic tool for the detection of small insertions and deletions (INDELs) in the human genome, which are the second most abundant class of human genetic variations. INDELs are implicated in many human diseases. Thus, the assessment of INDELs is critical for understanding disease etiology, disease susceptibility, and for interpreting personal genome sequencing data. The goal is to improve disease diagnosis and prevention.
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.
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.
Somatic Retrotransposition Drives Neoplastic Mutagenesis In Glioblastoma Multiforme
Funder
National Health and Medical Research Council
Funding Amount
$667,342.00
Summary
Retrotransposons are mobile genes that copy-and-paste themselves in our genome. Previously thought to represent “junk DNA”, retrotransposons are increasingly found to play major roles in biology. In a recent landmark publication in Nature, we demonstrated that retrotransposons move in the healthy human brain. In the current study, we will use cutting-edge technologies to determine whether brain cancer can occur as a result. This will provide new perspectives of the genetic basis for cancer.
Co-operation Between GATA2 Mutation Or Expression And RAS Signalling In AML
Funder
National Health and Medical Research Council
Funding Amount
$860,601.00
Summary
We have identified a gene GATA2 which, when mutated, can lead to leukaemia (blood cancer). We will collect samples worldwide from families and individuals that carry GATA2 mutations and have developed leukaemia, and will screen for other genetic changes that contribute to leukaemia. We have also identified a novel group of patients who have a low GATA2 activity and who also have mutations in the RAS gene, a known contributor to leukaemia. We will determine how these cooperate to cause leukaemia.
The Role Of Somatic Mutations In CCCTC-binding Factor (CTCF) Binding Sites In Cancer
Funder
National Health and Medical Research Council
Funding Amount
$371,114.00
Summary
The three dimensional organisation of genomic DNA has been recognised to play a crucial role in maintaining the stability and function of human cells. In cancer this organisation is often perturbed as a result of mutations to proteins that govern this process. This project will examine how mutations in the DNA may potentially alter the three dimensional organisation of cancer genomes and will identify links between these mutations with cancer development and patient prognosis.
Novel Skeletal Muscle Enriched Genes In Muscle Biology And Disease
Funder
National Health and Medical Research Council
Funding Amount
$900,467.00
Summary
Each year hundreds of Australians are born with genetic muscle diseases, however, current methods fail to identify the causative disease gene in ~50% of patients. Here we will use expression patterns in skeletal muscle to prioritize novel candidate disease causing genes. We will functionally test the role of genes expressed in skeletal muscle cells using novel experimental assays. Uniquely, we will for the first time incorporate a novel class of gene (long non-coding RNAs) into our study.