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
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.
Diagnosing Chromosomal Translocations In Solid Tumours
Funder
National Health and Medical Research Council
Funding Amount
$410,997.00
Summary
Mis-repair of broken chromosomes can fuse together genes that then cause cancer. Current clinical tests are only capable of detecting single well-known gene fusions and are incapable of identifying new fusion events or fusion variations. We have developed a diagnostic technology, termed CaptureSeq, that is capable of finding all fusion genes in a patient sample. In this grant, we will demonstrate the use and advantages of CaptureSeq for diagnosing fusion genes in cancer patients.
Using Mouse Models To Decipher The Function Of Caspase-2 In Limiting Aneuploidy Tolerance And Cancer
Funder
National Health and Medical Research Council
Funding Amount
$871,162.00
Summary
Aneuploidy or abnormal chromosome number is a feature of cancer cells. The extent of aneuploidy is often predictive of prognosis and the effectiveness of cancer treatment. We discovered that a tumour suppressing protein, caspase-2, is important for deleting aneuploid cells that may otherwise become cancerous. In this project we will use cancer models to decipher how caspase-2 safeguards against aneuploidy and cancer to better understand how cancer cells can survive and be targeted for treatment.
The Relationship Between Genes, Environment And Oral Disease In Childhood - A Study Of Twins
Funder
National Health and Medical Research Council
Funding Amount
$88,766.00
Summary
Half of Australia's children suffer tooth decay, placing them at risk of toothache, infection and hospitalisation, as well as a host of other problems like sleeping, eating and concentrating. Current preventive strategies are failing, due to an incomplete understanding of the causes of decay. This study of twins, who have been followed since pregnancy, will help to explain the role of genetics as well as other factors such as maternal and early childhood illness in dental disease.
Whole Genome Pharmacogenomics Study Of Susceptibility Of Birth Defects In Children Born To Mothers Taking Anti-Epileptic Drugs
Funder
National Health and Medical Research Council
Funding Amount
$663,160.00
Summary
This project will investigate for genes that determine why certain women have an increased risk of having a baby with a birth defect if they become pregnant while being treated with a medication for epilepsy. Subjects will be recruited from the Australian Pregnancy Register, the findings validated using subjects from the UK Epilepsy and Pregnancy Register. The study will comprehensively examine for both common and rare changes in genes across the entire human genome.
Sex Chromosome Instability In Disorders Of Development
Funder
National Health and Medical Research Council
Funding Amount
$627,633.00
Summary
Chromosomes must be copied and distributed faultlessly into the newly dividing cells for normal development to occur. Factors that affect this process are often associated with health problems such as birth disorders, cancer, premature aging and infertility. This project plans to identify genetic factors that compromise the faithful transmission of chromosomes from cell to cell. Results gained from this project will greatly assist in the diagnosis of chromosome-related disorders.
Epigenetic Regulation Of Male Fetal Germ Cell Development.
Funder
National Health and Medical Research Council
Funding Amount
$562,176.00
Summary
Men’s health has declined over recent decades, but the causes remain unknown. Non-genetic (epigenetic) mechanisms affecting formation and function of the male germ cells (which produce sperm) may play an important role. We will determine the role of a key epigenetic modifier on the formation and function of male germ cells, including germ cell tumours. This study will provide fundamental insights into male germ cell epigenetics, and significantly contribute to understanding men's health.