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.
Defining The Role Of Genetic Variants In Systemic Lupus Erythematosus: Copy Number Variants And Epigenetic Mechanisms
Funder
National Health and Medical Research Council
Funding Amount
$338,625.00
Summary
Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease associated with increased risk of mortality, severely impacting the quality of life for those affected. A large number of genes have been implicated in SLE susceptibility, however we know little of the genetic mechanisms proceeding disease onset. This project uses state of the art technology to define the role of genetic variants in SLE susceptibility and identify their importance across patients of different ethnic backgrounds.
Synthetic DNA Standards For Clinical Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$870,005.00
Summary
Genome sequencing can diagnose a wide range of mutations that cause human disease. However, errors during sequencing and analysis can lead to incorrect diagnosis. We propose to develop synthetic representations of genetic mutations that are then added to a patient’s DNA sample and act as internal controls throughout the clinical sequencing workflow. These controls improve the accuracy and reliability of mutation detection, resulting in improved diagnosis and better-informed patient care.
Role Of Common Genetic Variation Driving Single Cell Transcriptional Heterogeneity Across The Cardiomyocyte Lineage
Funder
National Health and Medical Research Council
Funding Amount
$882,698.00
Summary
In human tissues, most mature cells develop by differentiation from pluripotent stem cells. As they undergo differentiation, their transcriptional activity changes dramatically. Many of the genetic causes for these changes are unknown, which limits research in the use of stem cells for treating and modelling disease. This proposal addresses this problem with cardiac muscle cell differentiation by utilising recent developments in biotechnology that enables individual cells to be sequenced.
Diagnosis Of Inherited Genetic Disorders Using DNA Reference Standards
Funder
National Health and Medical Research Council
Funding Amount
$690,820.00
Summary
Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.
Schizophrenia Under The Genomic Lens: Next Generation Sequencing Of Western Australian Families With Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$991,659.00
Summary
We will perform whole genome sequencing of 376 members of 88 Western Australian families, including 113 individuals with a diagnosis of schizophrenia. We will use the sequence data to conduct a gene-cenric analysis of rare genomic variants likely to contribute to schizophrenia risk in these families.
Using Next-generation Sequencing Technology To Identify Genetic Determinants Of Epilepsy And Sporadic Epilepsy Prognosis
Funder
National Health and Medical Research Council
Funding Amount
$322,282.00
Summary
Recent advances in high-throughput, next-generation, DNA sequencing allows biologists to simultaneously analyse the differences in thousands of different genes across affected and unaffected individuals. However, it produces an overwhelming amount of data and making sense of this deluge of data is a current challenge. Overcoming this challenge will enable scientific discoveries of pathogenic variants of disease, potentially providing an opportunity for targeted drug development.
Fisheries genomics of snapper in Australia and New Zealand Waters. This industry-driven project aims to assemble a strategic research alliance to generate and apply knowledge to a highly significant fisheries resource. It involves collaboration between the five major state government fisheries agencies in Australia, the New Zealand’s Crown Research Institute for seafood and two Australian labs with leadership in fish genetics and genomics. It expects to generate and integrate genomic, environmen ....Fisheries genomics of snapper in Australia and New Zealand Waters. This industry-driven project aims to assemble a strategic research alliance to generate and apply knowledge to a highly significant fisheries resource. It involves collaboration between the five major state government fisheries agencies in Australia, the New Zealand’s Crown Research Institute for seafood and two Australian labs with leadership in fish genetics and genomics. It expects to generate and integrate genomic, environmental and phenotypic datasets for snapper populations from across vast coastal regions of the two countries. The outcomes should substantially enhance intra- and inter-jurisdictional fisheries management and aquaculture initiatives, providing commercial, social and environmental benefits for many stakeholders.Read moreRead less