Real-time phylogenetics for food-borne outbreak surveillance. The project aims to introduce, for the first time, real-time evolutionary analysis of agricultural pathogens so that outbreaks affecting crops and the food supply can be managed precisely and rapidly. An expert team will implement a large-scale data analytics framework in user-friendly software that integrates Australian infectious disease genomics data with global data. Underpinning this work are new theory and algorithms that apply ....Real-time phylogenetics for food-borne outbreak surveillance. The project aims to introduce, for the first time, real-time evolutionary analysis of agricultural pathogens so that outbreaks affecting crops and the food supply can be managed precisely and rapidly. An expert team will implement a large-scale data analytics framework in user-friendly software that integrates Australian infectious disease genomics data with global data. Underpinning this work are new theory and algorithms that apply Sequential Monte Carlo to update phylogenetic analyses continuously as new data arrives. Expected outcomes include new knowledge of statistical algorithms for evolutionary analysis, relevant to biological disciplines beyond infectious disease; and enhanced capacity for infectious disease analysis. Read moreRead less
Robust Bioinformatics For Predicting Bacterial Pathogens From Microbiome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$644,151.00
Summary
We propose to develop new methods for the identification of microbial pathogens using High Throughput DNA Sequencing (HTS). Study of the microbiome - the genes encoded by the assemblage of microbial species present in an environment - using HTS technologies is revolutionising our understanding of human-microbe interactions. Our proposed work includes fundamental computational and theoretical advances and applying these techniques to solve critical problems in pathogen detection.
Integrating Population Genetics, In Silico And Functional Data To Enable Precision Medicine In The Epilepsies
Funder
National Health and Medical Research Council
Funding Amount
$425,048.00
Summary
Epilepsy has proven to be a very genetically tractable neurological disorder. However, while we now routinely identify causal mutations in out patient populations, the process of understanding which are contributing versus which are benign background variation becomes critical as we move towards a period where precision medicine is becoming a reality for some patients. This work will focus on bringing together multiple levels of data to explore integrated models of predicting epilepsy variants.
Development Of Genomic Tools For Precision Medicine In Infectious Disease And Cancer
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
I will develop tools for precision medicine in cancer and infectious disease. In infectious disease, these tools will provide rapid diagnosis of bacterial infection as well as the characterization of drug resistance, which will mean clinicians can give the correct antibiotic the first time. In cancer, it will provide tools for identifying the type of cancer present in a patient, and for identifying the likely response to different treatment options on the basis of which genes are switched-on
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.
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.
Combining Human Genetics With Single-cell Genomics To Unravel The Differentiation Dynamics Of Human Induced Pluripotent Stem Cells
Funder
National Health and Medical Research Council
Funding Amount
$354,156.00
Summary
We now have the ability to reprogram mature cells from an adult human into pluripotent stem cells, raising the possibility of using a patient’s own cells for treating currently incurable diseases. My project will provide a better understanding of the role genetic variation between people plays in the variability of the expression and regulation of genes between individual cells during the cell differentiation process. I will also develop statistical and software tools to conduct these analyses.
Application Of Next Generation Sequencing To Address Clinical Problems In Cancer
Funder
National Health and Medical Research Council
Funding Amount
$463,652.00
Summary
Cancer is the cause of 1 in 8 deaths worldwide. Cancer occurs due to errors or mutations in the DNA of normal cells. The mutations may cause the cells to grow incorrectly and become cancer. I will identify the mutations or errors in tumour cells. This will tell us: i) How the tumour started and continued to grow ii) How to treat the tumour cells to kill the cancer The work will involve a variety of cancer types including mesothelioma, melanoma, oesophageal, pancreatic and breast cancer.
How novel ribosomal RNA gene repeat variants drive cellular function. The hundreds of ribosomal RNA gene repeat copies are a remarkable part of our genomes, as they encode the machinery responsible for all cellular protein synthesis and shape the structure of the nucleus. However, due to their high degree of sequence similarity, they still have not been assembled into the human genome reference. This project will resolve this impasse and furthermore uncover the functional impacts of a newly iden ....How novel ribosomal RNA gene repeat variants drive cellular function. The hundreds of ribosomal RNA gene repeat copies are a remarkable part of our genomes, as they encode the machinery responsible for all cellular protein synthesis and shape the structure of the nucleus. However, due to their high degree of sequence similarity, they still have not been assembled into the human genome reference. This project will resolve this impasse and furthermore uncover the functional impacts of a newly identified molecular diversity in the ribosomal RNA gene repeats. Outcomes include new paradigms for how the ribosomal RNA gene repeats drive protein synthesis and genome structure, and a blueprint to develop novel genomics applications for human health, biotechnology, and agriculture.Read moreRead less
Molecular Networks And Genomics Of Host Response In Typhoid Fever
Funder
National Health and Medical Research Council
Funding Amount
$487,814.00
Summary
Typhoid fever affects 25 million people annually and is caused by systemic infection with Salmonella Typhi or Paratyphi. With this proposal, we will characterise how different individuals respond differently to typhoid, what ramifications this has for systemic Salmonella infection in humans, and how typhoid can be clinically identified early on, thus giving the patient the best possible chance to avoid complications, injury and potential death.