Cardiomyopathy is the term used to describe diseases that affect the heart, in particular the muscle fibres which contract with each heartbeat. Dysfunction of these muscle cells is a significant cause of cardiovascular disease that can affect people of all ages. Recent studies have demonstrated that many cardiomyopathies may have an underlying genetic basis. This project will identify genes that are involved in heart disease and aid the development of improved treatment programs for these disord ....Cardiomyopathy is the term used to describe diseases that affect the heart, in particular the muscle fibres which contract with each heartbeat. Dysfunction of these muscle cells is a significant cause of cardiovascular disease that can affect people of all ages. Recent studies have demonstrated that many cardiomyopathies may have an underlying genetic basis. This project will identify genes that are involved in heart disease and aid the development of improved treatment programs for these disorders.Read moreRead less
Evolutionary Genomics Approaches For Studying Acquisition Of Drug Resistance In Tumours
Funder
National Health and Medical Research Council
Funding Amount
$313,390.00
Summary
Chemotherapy often fails because some of the cells in tumour evolve resistance to the drugs the patient is given, causing relapse. We study how a tumour’s unstable genome and high rate of mutation drives its evolution by observing tumour cells in the laboratory as they evolve resistance to drugs and the genetic differences between resistant and sensitive cells. This work will help develop therapeutic strategies to prevent tumours from evolving resistance to chemotherapy.
Genetic factors responsible for risk of breast and prostate cancer are largely unknown. Mutations in genes currently known to be associated with susceptibility only account for a small proportion of the familial aggregation of these cancers. I will be applying new genetic technology to population-based studies of cancer to identify new genetic and epigenetic markers of cancer risk. I will use this information to improve health care for families with prostate and breast cancer.
Clinical Application Of Genomic Approaches For Cancer
Funder
National Health and Medical Research Council
Funding Amount
$707,370.00
Summary
Cancer is the cause of 1 in 8 deaths worldwide. Cancer occurs due to errors or mutations in the DNA of normal cells. I will identify the mutations in tumour cells, which will tell us: i) How the tumour started and grew ii) How to treat the tumour and kill the cancer The work involves a variety of cancer types including mesothelioma, melanoma, oesophageal and breast cancer. The overall aim is to apply some of the research findings or approaches into patient care to improve patient survival.
Regulatory RNAs Underlying Genetic Associations With Ankylosing Spondylitis
Funder
National Health and Medical Research Council
Funding Amount
$431,201.00
Summary
Ankylosing spondylitis is a chronic inflammatory disease affecting the spine and causing back pain. The diagnosis of the disease is delayed by up to 10 years due to lack of accurate tests. We aim to identify molecular signatures of the disease that might be used to distinguish inflammatory processes typical of the disease and other causes of back pain. This would allow earlier and more accurate diagnosis of the disease and result earlier patient treatment and better health outcomes.
Discovery Early Career Researcher Award - Grant ID: DE150101117
Funder
Australian Research Council
Funding Amount
$327,000.00
Summary
The functional impact of new genes acquired through retrotransposition. Novel copies of genes often arise through retrotransposition of processed messenger RNAs. Many thousands of gene copies have arisen over evolutionary time and some of these have retained functionality while diverging from the parental gene leading to new paralogs under different regulatory regimes. Through analysis of whole-genome sequence data, we are now able to identify very recent gene copies that are not present in the ....The functional impact of new genes acquired through retrotransposition. Novel copies of genes often arise through retrotransposition of processed messenger RNAs. Many thousands of gene copies have arisen over evolutionary time and some of these have retained functionality while diverging from the parental gene leading to new paralogs under different regulatory regimes. Through analysis of whole-genome sequence data, we are now able to identify very recent gene copies that are not present in the reference genomes for various species, giving us the opportunity to explore the effects of new copies on the regulation of the original gene and the surrounding genomic environment into which the new copy is inserted. This project aims to address these important open questions through computational and biochemical approaches.Read moreRead less
As a molecular geneticist, I am interested in how and why genetic mutations occur, how these changes cause disease or disease predisposition, and ways of better treating and monitoring genetic disease. The ‘model diseases’ I am most interested in are blood cell diseases such as autoimmunity (e.g. arthritis) and leukaemias.
Cancer Genomics; Psychosocial, Behavioural And Ethical Issues And Outcomes, Two Inter-related Longitudinal Studies
Funder
National Health and Medical Research Council
Funding Amount
$506,654.00
Summary
Over 1/3 of patients with cancer will die of their disease. Genomics offers hope of more tailored risk management and treatment, but will only realize its promise if patients understand, cope with, inform relatives about, and make informed decisions based on, genomic results. This study will be the first internationally to explore the knowledge, attitudes, preferences, experiences and outcomes of cancer patients who undergo genomic testing and their relatives, over time.
Using venoms to map critical and evolutionary conserved vulnerabilities. We have developed and applied new functional genomic approaches to study venom evolution. Using CRISPR screening, we find that unrelated venoms act on cells by exploiting the same vulnerabilities. By functionally mapping these vulnerabilities for all venom classes, we can begin to develop universal venom antidotes. Conversely, much of what we know about venom mechanisms comes from a small percentage of the biodiversity with ....Using venoms to map critical and evolutionary conserved vulnerabilities. We have developed and applied new functional genomic approaches to study venom evolution. Using CRISPR screening, we find that unrelated venoms act on cells by exploiting the same vulnerabilities. By functionally mapping these vulnerabilities for all venom classes, we can begin to develop universal venom antidotes. Conversely, much of what we know about venom mechanisms comes from a small percentage of the biodiversity within a venom, and we have developed genomic tools to study the venom “dark matter”. This work will lead to the full molecular characterisation of venom biodiversity, and new venom components will be useful for research or as novel medicines.Read moreRead less
The Role Chromatin Remodeling Factors In Epigenetic Regulation Of Cardiac Arrhythmia
Funder
National Health and Medical Research Council
Funding Amount
$854,135.00
Summary
Cardiovascular diseases kill an Australian every 11 minutes. Arrhythmias are of particular alarm since they can lead to significantly higher risk of serious strokes, heart failure, and overall mortality. We combine fruit fly genetics with next generation human genomics approaches to find and functionally validate new genes and mutations regulating arrhythmia in fruit flies and atrial fibrillation in humans, and this work can rapidly identify new avenues to pursue therapeutic intervention