Normal embryonic and foetal devlopment depends on the ability of cells to move from one place to another. This behaviour enables cells to be produced at one site and transported to one or a number of other sites. Although the face appears to us as a single seamless unit it originates as a number of blocks of tissue which begin development separately and must grow in a coordinated way that enables them to meet at precisely the correct time, in the correct place and in the correct order. The basis ....Normal embryonic and foetal devlopment depends on the ability of cells to move from one place to another. This behaviour enables cells to be produced at one site and transported to one or a number of other sites. Although the face appears to us as a single seamless unit it originates as a number of blocks of tissue which begin development separately and must grow in a coordinated way that enables them to meet at precisely the correct time, in the correct place and in the correct order. The basis of this growth and fusion is the ability of individual cells to move around the embryo to supply the raw materials for this construction process when and where they are needed. The combined activities of the cells in constructing the various parts of the embryo is known as morphogenesis which literally means creating shape. We are trying to gain insight into the basis of morphogenesis that produces the face. This is important because the face and other structures that are closely associated with it are particularly prone to errors. Despite this, surprisingly little is known about the mechansims that control development of the face. We know a great deal about which cells are involved in constructing the face but very little about what triggers the initial steps of development or maintains ordered growth. Our research is aimed at defining genes that are important in controlling development of the face through the study of normal development and birth defects. We are defining the function of genes that appear to be important in controlling the behaviour of cells during early development of the face. This knowledge will assist in understanding the control mechanism for facial devlopment and will eventually lead to improvements in the treatment and prevention of birth defects affecting these structures.Read moreRead less
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.
Functional Evaluation Of BRCA1 & BRCA2 Unclassified Sequence Variants And Identification Of Critical Pathogenic Domains.
Funder
National Health and Medical Research Council
Funding Amount
$331,312.00
Summary
The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of the se ....The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of the sequence change. Consequently, it is not possible to offer informative genetic counselling to these women or their at-risk family members. Assessment of the potential pathogenicity and functional significance of these unclassified sequence variants will be directly useful with regard to the clinical management of these women and their families, and will develop our current understanding of how different domains of these genes contribute to their role as cancer susceptibility genes.Read moreRead less
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.