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
Functional Screening Of Novel Genes In Craniofacial Development
Funder
National Health and Medical Research Council
Funding Amount
$540,075.00
Summary
Our faces are central to our ability to communicate, feed, breath and interact with each other. Birth defects that impact on the normal development of the face are common and affect not only the child but have a dramatic impact on the child's family as well. The genetic causes of most facial birth defects are unknown. This project will develop a method for determining how development of the face is controlled and will help identify genes that are responsible for facial birth defects.
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
Evaluation Of Unclassified Variants Of BRCA1 And BRCA2 Using A Multifactorial Approach
Funder
National Health and Medical Research Council
Funding Amount
$456,495.00
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 may 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 th ....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 may 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. In addition, some of our experiments to classify variants may be useful as a screening tool to identify carriers of mutations, and so prioritize them for mutation screening.Read moreRead less