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.
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.
Mechanistic And Functional Drivers Of Neochromosome Evolution
Funder
National Health and Medical Research Council
Funding Amount
$763,771.00
Summary
Neochromosomes are Frankenstein chromosomes--massive extra chromosomes that are stitched together from 100s of pieces of normal chromosomes. They are found in 3% of cancers, but are common in some types, such as liposarcoma. We have mapped their structure and found they form through punctuated chromosome shattering and gene amplification. We will investigate the precise molecular mechanisms that cause this and the recurrent transcriptional and epigenetic drivers lead to their formation.
Developing Core Bioinformatics Capacity At The Australian Institute Of Tropical Health And Medicine
Funder
National Health and Medical Research Council
Funding Amount
$318,768.00
Summary
Cost-effective next generation sequencing is now a reality, meaning the bottleneck for research projects is shifting from data generation to data analysis. Researchers at the Australian Institute of Health and Tropical Medicine (AITHM) are engaged in an increasing number of high-impact projects that require timely access to bioinformatic best-practices methodologies. This proposal outlines a strategy to support these projects by developing and expanding the bioinformatics capacity within AITHM.