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Harnessing The Power Of Genomics To Understand Disease
Funder
National Health and Medical Research Council
Funding Amount
$470,144.00
Summary
The last 10 years have seen a revolution in our ability to sequence DNA and related molecules. This technological advancement has the potential to transform our knowledge of the mechanisms of development and disease. In order to harness the power of this technology, advances in analysis strategies and methods are critical to extract the important insights into these massive data sets. My research will lead the way in several major areas of bioinformatics research.
Using Systems Biology To Model And Predict Human Diseases
Funder
National Health and Medical Research Council
Funding Amount
$423,326.00
Summary
In the last decade, technological advances have driven the study of biology towards the statistical and computational sciences. Researchers are now able to differentiate and quantify biomolecules at levels previously unimaginable, allowing us to study their interactions and relationships to health and disease in an unbiased, systems-level manner. With expertise in bioinformatics, biostatistics and systems biology, I am uniquely placed to address these challenges.
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.
Improving Bioinformatic Methods For Studying Gene Regulation In Health And Disease
Funder
National Health and Medical Research Council
Funding Amount
$463,652.00
Summary
New methods for analysing genome-wide data will be developed to ease the data analysis bottleneck that currently exists in medical research. Modelling variation in gene expression from single cells, in screens designed to uncover gene function and assays that measure the factors that turn genes on or off will be the focus. Free software will be developed and made available to researchers worldwide to help them interpret the large and complex data sets that are now routine in genomic medicine.
L1 Retrotransposition In Human Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$414,085.00
Summary
Retrotransposons are mobile genes that copy-and-paste themselves in the human genome. Previously thought to represent ñjunk DNAî, retrotransposons are increasingly being found to play important roles in biology. This fellowship will allow Dr Faulkner to research the consequences of retrotransposons being active in the body during development, and in adulthood, as a potential cause of cancer.
Genomic-based Tools To Support The Control Of Urogenital Schistosomiasis And Hepatic Opisthorchiasis
Funder
National Health and Medical Research Council
Funding Amount
$419,180.00
Summary
Over 100 million people are affected by parasitic flukes that promote malignant tumours. Parasite control depends on a single drug, making resistance an imminent threat. I will deliver new genomic tools to unravel the complex interactions between parasites and humans, and explore parasite population diversity on a continental scale. I will then prioritise a panel of anti-parasitic drug targets and vaccine candidates to deliver the next generation of interventions against parasitic diseases.
Food allergies have emerged as a major public health concern affecting 1 in 10 Australian infants. Hospitals waiting times are in excess of 12-months for specialist services. Recent changes in the environment are driving up rates of food allergy but the mechanisms are unclear. Epigenetics is the science of how the environment influences gene behaviour. This fellowship will address the important and urgent question of how modern environments are changing our genes, leading to food allergy.
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
Discovering The Genetic Causes Of Congenital Heart Disease Using Systems Biology
Funder
National Health and Medical Research Council
Funding Amount
$419,180.00
Summary
Congenital heart disease (CHD) affects one in one hundred live-born babies, representing a significant health burden in Australia and worldwide. My research team is using state-of-the-art DNA sequencing technology to sequence the entire genome of hundreds of patients with CHD and their family members. My research program develops fast and reliable computer software to accelerate the discovery of the genetic causes of CHD, and make personalised genome-based medicine a reality.
Practice- And Policy-relevant Research In Skin Cancer Epidemiology, Prevention And Screening
Funder
National Health and Medical Research Council
Funding Amount
$483,402.00
Summary
This Fellowship will enable me to lead an internationally-competitive program of research in skin cancer epidemiology, prevention & screening that will lead to improved patient and population health through impacts on clinical practice and health policy. My aim is to lead paradigm-shifting contributions in: ? Genetic epidemiology of melanoma, ? Precision skin cancer prevention & screening, and ? Public health genomics for cancer prevention.