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.
Computational Methods For The Analysis Of Next Generation Sequence Data In Human Disease
Funder
National Health and Medical Research Council
Funding Amount
$401,361.00
Summary
Modern DNA sequencing technologies generate data at an unprecedented rate, providing the opportunity to develop deep insights into human disease. We can now sequence a tumour genome in a matter of weeks, or assay epigenetic marks in the malaria parasite genome, but these data raise new analysis challenges requiring new statistical and computational methods to solve. This fellowship will support the development of such new methods and will contribute to basic discoveries in human disease.
Defining The Role Of RNA Editing In Erythropoiesis
Funder
National Health and Medical Research Council
Funding Amount
$628,945.00
Summary
We are seeking to understand how red blood cells are produced. We have identified that a process called RNA editing may be important in the regulating the production of red blood cells.
Reactivities Of CD8 T Cells To Mutated Neo-antigens In Lung Malignancies
Funder
National Health and Medical Research Council
Funding Amount
$661,979.00
Summary
Tumours express mutated proteins (called ‘neo-antigens’) which can be targets of powerful killer T cells which can destroy cancer cells. To understand why these cells fail to cure most cancers we will study neo-antigens identified by modern DNA sequencing methods to identify these neo-antigens & the responses to them. Then it will be possible to design trials in individual patients, e.g. personalised vaccines to ‘force’ the immune system to attack cells bearing these neo-antigens.
Investigating The Genetic Cause Of Genital Abnormalities In Males
Funder
National Health and Medical Research Council
Funding Amount
$299,564.00
Summary
This project investigates the genetic cause of a relatively common defect in male genitalia, hypospadias, in which the penis opening is aberrantly located. Hypospadias affects 1 in ~250 males, usually requires surgery and can cause problems with intercourse and urination. Using new technologies to study patient DNA, we will identify mutations causing hypospadias and new genes involved in development of the male genitalia. This will lead to improved clinical diagnosis and management of patients.
Determining The Genetic Basis Of Skeletal Dysplasias Using Next Generation Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$110,068.00
Summary
Osteoporosis is a common condition in Australia, yet treatment options are still limited. Study of rare genetic bone conditions known collectively as skeletal dysplasias have already led to the development of two new osteoporosis drug treatments. My project aims to identify the causative gene for several skeletal dysplasias, and to determine how these genes are involved in the development and maintenance of bone. This knowledge may then translate into new osteoporosis therapies.
Tracking B Cell And Neutralising Antibody Responses In Hepatitis C Virus Infections
Funder
National Health and Medical Research Council
Funding Amount
$318,768.00
Summary
Hepatitis C virus is one of the most significant human pathogens. There is no vaccine for HCV, and the antiviral treatment is expensive and does not stop reinfection. This project will study how the immune system of people infected with HCV generates antibodies to clear the virus. This will inform research efforts to design successful preventative vaccine to protect against this viral pathogen.
Integrating Genotype And Phenotype In Clinical Molecular Epidemiology
Funder
National Health and Medical Research Council
Funding Amount
$316,449.00
Summary
With an ever increasing availability of virus genetic sequences and clinical data, we can apply new approaches to better understand and combat infectious diseases. This study aims to develop new state-of-the-art tools to answer such questions as: Do viruses evolves to become more virulent? How does drug resistance emerge and spread through virus populations? And more generally, how does virus genetics contribute to the variation in disease outcomes?