A Randomised Controlled Trial Of A Decision Aid For Prenatal Screening And Diagnosis
Funder
National Health and Medical Research Council
Funding Amount
$269,625.00
Summary
Prenatal screening is becoming increasingly available to pregnant women in many countries, including Australia, to test for Down syndrome and other chromosomal disorders as well as neural tube defects. Almost half the pregnant women in Victoria are now undergoing prenatal screening. Inherent in all screening tests is the possibility of false positive or false negative results. More than 5% of all women undergoing prenatal screening are likely to receive false positive results and must decide whe ....Prenatal screening is becoming increasingly available to pregnant women in many countries, including Australia, to test for Down syndrome and other chromosomal disorders as well as neural tube defects. Almost half the pregnant women in Victoria are now undergoing prenatal screening. Inherent in all screening tests is the possibility of false positive or false negative results. More than 5% of all women undergoing prenatal screening are likely to receive false positive results and must decide whether to put the pregnancy at risk of miscarriage, or a possible pregnancy termination, as a result of the necessary follow-up invasive diagnostic test. Many women do not realise they may have to face this decision. Others are not aware that their baby may be born with undiagnosed problems even if they have the screening test. One aspect of care that is likely to have a crucial influence on women's experience of screening is how much they are informed about a test prior to undergoing it. Most women visit a GP early in the first trimester of pregnancy. This visit provides an opportunity for information provision about prenatal screening. Decision aids have been developed as adjuncts to practitioners' counselling to prepare patients for decision-making. In this project we will be developing a decision aid for women considering their prenatal screening options. A randomised controlled trial will compare the efficacy of a general educational pamphlet to that of a tailored decision aid in preparing women for decision-making about prenatal screening. A total of 500 women who are less than 11 weeks pregnant and are attending one of 50 GPs will be included. Self-report questionnaires will be used to assess women immediately after use of the educational materials and then again at 24 weeks of pregnancy. The impact of the educational materials on informed choice, decisional conflict, anxiety, depression and uptake of prenatal screening tests will be compared.Read moreRead less
The Role Of Centromere Defects In Cancer Formation And Progression
Funder
National Health and Medical Research Council
Funding Amount
$601,386.00
Summary
When cells divide, their DNA must be copied and distributed faultlessly into the new cells. Defects in the factors that control this process will result in serious health problems including cancer. The objective of this project is to identify what these factors are and study how they contribute to cancer. Results gained from this project are expected to significantly increase our understanding of how cancer cells control the replication of their DNA and therefore their own fate.
Mechanisms By Which Chromatin Modulates Gene Expression.
Funder
National Health and Medical Research Council
Funding Amount
$267,750.00
Summary
Gene expression in a cell occurs in the nucleus where genes are stored. In the nucleus, DNA is not in a free form but is covered with an equivalent weight of protein to form a structure known as chromatin. Chromatin is a periodic structure made up of repeating, regularly spaced subunits, the subunit being the nucleosome. A nucleosome consists of a group of proteins (histones) wrapped around with DNA. A nucleosome is both capable of blocking and activating gene expression. Therefore one important ....Gene expression in a cell occurs in the nucleus where genes are stored. In the nucleus, DNA is not in a free form but is covered with an equivalent weight of protein to form a structure known as chromatin. Chromatin is a periodic structure made up of repeating, regularly spaced subunits, the subunit being the nucleosome. A nucleosome consists of a group of proteins (histones) wrapped around with DNA. A nucleosome is both capable of blocking and activating gene expression. Therefore one important function of chromatin is to tightly regulate gene expression which is essential to allow an organism to develop properly. When gene expression is not accurately controlled by chromatin developmental defects or cancer can result from the production of incorrect proteins. To control correct gene expression, highly specific mechanisms must operate in the cell to remove, or modify, nucleosomes at certain genes at a precise time during development. One mechanism that we believe to be important is changing the make-up of a nucleosome. This can be achieved in the cell by the replacement of histones with different specialized forms of these histones (variants). We believe that these histone variants can specifically generate chromosomal domains which could in some cases expose or in other cases hide certain genes and thereby turn them on or off. Employing a new approach, we will study one of these histone variants to discover the role it plays in determining the type of chromosomal domain made and the role of this domain has in turning genes on or off at precise times in early development during the formation of different specialized cell types. This new information may define targets for the prevention of incorrect gene expression during cancer progression or abnormal development.Read moreRead less
Towards Adequate National Provision Of Genomic Testing In Pregnancy
Funder
National Health and Medical Research Council
Funding Amount
$515,493.00
Summary
Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential ....Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential legal and policy changes in Australia.Read moreRead less
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.
Genomic Signposts, High-resolution Sequencing And Novel Genes In Eye Disease
Funder
National Health and Medical Research Council
Funding Amount
$333,694.00
Summary
Blindness is a very distressing sensory loss. Hereditary eye disorders account for the vision impairment in at least one-third of people who are registered as blind. These disorders cause blindness from a young age and work productivity is significantly impaired. This project will identify novel genetic factors in blinding eye disorders. Identifying these genetic factors will lead to better early detection methods for people and improved treatments to prevent the blindness.
Screening For Chlamydia Trachomatis With Routine Pap Smears In General Practice: A Randomised Controlled Trial
Funder
National Health and Medical Research Council
Funding Amount
$350,500.00
Summary
Genital chlamydia infection is the most commonly reported infectious disease in Australia. Notifications have increased three fold since 1995; five-fold in the ACT and surveillance data underestimate the true incidence of the disease in the community. Chlamydia is associated with immediate morbidity in men and women including urethritis, epididymo-orchitis, cervicitis, and pelvic pain and long-term complications including pelvic inflammatory disease, ectopic pregnancy and tubal factor infertilit ....Genital chlamydia infection is the most commonly reported infectious disease in Australia. Notifications have increased three fold since 1995; five-fold in the ACT and surveillance data underestimate the true incidence of the disease in the community. Chlamydia is associated with immediate morbidity in men and women including urethritis, epididymo-orchitis, cervicitis, and pelvic pain and long-term complications including pelvic inflammatory disease, ectopic pregnancy and tubal factor infertility. The economic costs of Chlamydial infection in Australia have been estimated to be as high as $160 million each year. In the ACT 73.8% of chlamydial infections occur in the 20-40 year old group. Between 60 and 70% of women in this age range participate in Pap screening every two years. While targeted screening for Chlamydia in women is effective in the US, there are few studies that investigate its value in an Australian setting. In this randomised controlled clinical trial we aim to test the novel hypothesis that the routine offer of chlamydia testing to women between 20 and 40 years who undergo Pap screening significantly increases the detection of Chlamydia in that population. This is the first randomised-controlled trial of its type and is an extension of a current non-randomised pilot study of linked Chlamydia-Pap screening in the primary care setting. The aim is to determine if the program can be incorporated more widely in the ACT. The study will: Measure the impact of linked chlamydia-Pap screening on chlamydia screening participation rates More accurately determine the epidemiology of genital chlamydial infection in this age group and social setting; Undertake an economic evaluation of this approach; Determine if promoting the Pap smear as an opportunity for chlamydial screening increases the uptake of Pap screening in younger women Aid in the development of a National Chlamydia Screening strategyRead moreRead less
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.
Cohesin: Role In Germ Cell Chromosomal Segregation
Funder
National Health and Medical Research Council
Funding Amount
$435,526.00
Summary
At least 10 to 25% of all human fetuses have the wrong number of chromosomes (aneuploidy). Most of these abormal fetuses perish in utero, making it the leading known cause of early pregnancy loss. Aneuploidy is the leading genetic cause of developmental disabilities and mental retardation. Abundant evidence suggests that most of these chromosome abnormalities originate during unequal partitioning of genetic material (chromosomes) in eggs and sperm. The proposed project focuses on two related gen ....At least 10 to 25% of all human fetuses have the wrong number of chromosomes (aneuploidy). Most of these abormal fetuses perish in utero, making it the leading known cause of early pregnancy loss. Aneuploidy is the leading genetic cause of developmental disabilities and mental retardation. Abundant evidence suggests that most of these chromosome abnormalities originate during unequal partitioning of genetic material (chromosomes) in eggs and sperm. The proposed project focuses on two related genes, called Rec8 and Rad21, which we recently discovered in humans and mice. Due to that these genes are essential for chromosome separation in other species and they exists in species as diverse as yeast and humans, they may be responsible for accurate separation of chromosomes in germ cells in mammals. In this proposal, we will determine the role(s) of these molecules in controlling proper chromosome segregation by loss-of-function studies in genetically engineered mice lacking Rec8 and Rad21 genes. By analyzing the chromosomal abnormalities of the cells from these animals, we will gain critical information about the nature of chromosome partitioning disorders in humans.Read moreRead less
Investigating Tumour Maintenance Using Regulated RNA Interference
Funder
National Health and Medical Research Council
Funding Amount
$511,294.00
Summary
Inhibiting gene expression using the recently discovered process known as RNA interference (RNAi) can be used as an experimental tool to analyse specific genes, in cells and genetically engineered animal models of human disease. I propose to validate potential drug targets in cancer by using RNAi to inhibit specific genes in established mouse tumours. A further aim is to use RNAi to mimic human cancer gene mutations in mouse cancer models, to discover novel tumour suppressor genes.