Our centre combines clinical and laboratory expertise to tackle autoimmune, inflammatory, and immune deficiency diseases. Starting from a genetic discovery platform, we aim to understand precisely how the immune system goes wrong in each individual patient to cause disease. This approach will make diagnoses more accurate and tailor treatment to each patient. The centre's approach should provide a template for the implementation of genomics and personalized medicine into routine clinical practice
Understanding Gene Regulation In Disease Using High Throughput Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$415,218.00
Summary
While genetics refers to the gene sequence, or DNA code, epigenetics refers to all the other factors that control how and when each gene is expressed. New technologies with the ability to sequencing billions of bases of DNA are now being used to study epigenetics. However the data sets are vast and complex. I use statistical and computational approaches in the emerging field of bioinformatics to make sense of this data and relate genome wide disruption of epigenetic marks to diseases.
The Landscape Of Cancer Genes And Associations With Prognosis In Breast Cancer Diagnosed In Premenopausal Women
Funder
National Health and Medical Research Council
Funding Amount
$700,512.00
Summary
Using state of the art technology, the purpose of this project is understand the implications of known cancer mutations in breast cancer diagnosed in premenopausal ER-positive breast cancer. Mutations are abnormalities in the DNA of genes that can provide a signal for uncontrolled growth, a hallmark of cancer. The unique aspect of this project is use of tissue samples from patients who were diagnosed with breast cancer at a young age. This information will help us develop new treatments.
GENETIC AND FUNCTIONAL CHARACTERISATION OF ERAP1 VARIANTS ASSOCIATED WITH ANKYLOSING SPONDYLITIS.
Funder
National Health and Medical Research Council
Funding Amount
$133,351.00
Summary
Ankylosing Spondylitis is a progressive arthritis which affects the back and causes the back joints to fuse. The project seeks to investigate the role of the ERAP1 protein and the gene which is the blueprint for the ERAP1 protein in causing Ankylosing Spondylitis. This will be through resequencing the gene, investigating the action of the different ERAP1 proteins and the effect of ERAP1 deficiency in mice.
Clonal Evolution In Myelodysplasia And Acute Myeloid Leukaemia Following Azacitidine
Funder
National Health and Medical Research Council
Funding Amount
$853,005.00
Summary
The myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML) represent a spectrum of clinically heterogeneous malignancies that remain incurable in the vast majority of patients. Whilst the DNA mutations underpinning the initiation/maintenance of these malignancies are largely known we have little insight into how these mutations alter response to therapy. Using a range of sophisticated cutting edge technologies we will study how these DNA mutations evolve over the course of treatment.
New Technologies For Hierarchial Shotgun Sequencing Of Recalcitrant And Repetitive DNA
Funder
National Health and Medical Research Council
Funding Amount
$79,750.00
Summary
Many repetitive regions of genomes are difficult to sequence and to assemble. �Sequencing Aided by Mutation� (SAM) is a new sequencing technology, which overcomes many of the difficulties that hinder current sequencing methods. SAM involves forming randomly mutated copies of the target DNA. These copies can then be sequenced and new mathematical tools permit the original target sequence to be revealed from the mutant copies. Here the technology will be developed to aid sequencing of long repetit ....Many repetitive regions of genomes are difficult to sequence and to assemble. �Sequencing Aided by Mutation� (SAM) is a new sequencing technology, which overcomes many of the difficulties that hinder current sequencing methods. SAM involves forming randomly mutated copies of the target DNA. These copies can then be sequenced and new mathematical tools permit the original target sequence to be revealed from the mutant copies. Here the technology will be developed to aid sequencing of long repetitive DNA fragments in genomes.Read moreRead less
MECHANISMS AND MARKERS OF TUBERCULOSIS TRANSMISSION WITHIN AUSTRALIA
Funder
National Health and Medical Research Council
Funding Amount
$799,978.00
Summary
Tuberculosis (TB) kills nearly 2 million people each year. The emergence of drug resistant TB in the Asia-Pacific region poses a particular threat to Australia, due to frequent population mixing and ongoing TB transmission that may facilitate its spread within vulnerable communities. The proposed study will develop advanced tools to monitor and limit TB transmission within Australia. It will also provide novel insight into the evolution of the global TB epidemic and key factors that sustain it.
A Universal Clinical Test For Gene Fusions In Blood Cancer
Funder
National Health and Medical Research Council
Funding Amount
$628,001.00
Summary
Mis-repair of broken chromosomes results in gene fusion and is a common feature of blood cancers. Current tests are only capable of detecting well-known gene fusions and are incapable of identifying new fusion events or fusion variations. We have developed a scientific technique, termed CaptureSeq, that can address these issues. We propose to use this technique as the foundation for a single clinical test for blood cancers, capable of detecting all possible fusion variations – known and unknown.
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.