Long-term Surgical And Socioeconomic Outcomes Following Aortopulmonary Septal Defect Repair In Children
Funder
National Health and Medical Research Council
Funding Amount
$89,197.00
Summary
About 2% of heart defects are due to communication between the 2 main arteries exiting the heart (truncus arteriosus and aortopulmonary window). If untreated, up to 30% of children die in the first year of life. With surgery many patients are now surviving into adulthood. The long-term outcomes are unknown. This study will review all patients with this defect across Australian and New Zealand. Results from this study will allow us to best manage these patients in the short and long-term.
Identifying The Genetic And Environmental Causes Of Congenital Malformation
Funder
National Health and Medical Research Council
Funding Amount
$774,540.00
Summary
Birth defects are common, devastating and costly to families and to society. The cause is unknown in 80% of cases. This research is helping families by finding the gene mutations that cause birth defects. Gene discoveries, in some cases, will highlight environmental factors that are important for normal embryo formation, such as oxygen levels and dietary components. By identifying gene and environmental factors associated with causing birth defects, we hope to ameliorate or prevent many cases.
Improved Treatment Of Congenital Cytomegalovirus Disease Through Study Of Placental Models Of Pathogenesis
Funder
National Health and Medical Research Council
Funding Amount
$674,918.00
Summary
Congenital CMV is the second most common cause of fetal malformation in Australia, and yet most pregnant mothers do not know about it, nor how to prevent congenital CMV in their baby. It is a viral infection that can severely damage the unborn baby. Our research aims to find more about how the virus damages the baby, and whether antiviral drugs are useful in reducing infection of the baby, and also reducing damage to the baby from such infection. If successful, these studies will be the basis fo ....Congenital CMV is the second most common cause of fetal malformation in Australia, and yet most pregnant mothers do not know about it, nor how to prevent congenital CMV in their baby. It is a viral infection that can severely damage the unborn baby. Our research aims to find more about how the virus damages the baby, and whether antiviral drugs are useful in reducing infection of the baby, and also reducing damage to the baby from such infection. If successful, these studies will be the basis for clinical trials in pregnant women.Read moreRead less
Understanding Human Dysmorphology Through Analysis Of ENU Mutant Mice
Funder
National Health and Medical Research Council
Funding Amount
$602,501.00
Summary
Birth defects are common and have an enormous impact on both the individual and their family. Birth defects are by definition the products of abnormal development of the embryo. Our research is aimed at identifying the normal mechanisms that usually prevail during development and the disturbances to those mechanisms that result in birth defects. These findings will lead to improved diagnostic, therapeutic and preventative options for families affected by birth defects
Rapid Identification And Characterisation Of Genes Involved In Skeletal Development
Funder
National Health and Medical Research Council
Funding Amount
$550,536.00
Summary
Birth defects are common and have an enormous impact on both the individual and their family. Birth defects are by definition the products of abnormal development of the embryo. Our research is aimed at identifying the normal mechanisms that usually prevail during development and the disturbances to those mechanisms that result in birth defects. These findings will lead to improved diagnostic, therapeutic and preventative options for families affected by birth defects
Dissecting The Role Of Hedgehog Signalling In Chondrogenesis And Skeletal Disease
Funder
National Health and Medical Research Council
Funding Amount
$408,739.00
Summary
There are close to 400 inherited disorders that affect how the skeleton develops, as well as a range of injury and age-related skeletal defects. There is much interest in treating such abnormalities with artificial bone grown outside the body. In order to achieve this aim we must understand all of the processes involved in producing and maintaining bone within the body. We are using both mouse and cell culture models of skeletal development to increase our understanding of these processes.
Evaluating Perceptual Benefits Of Bilateral Cochlear Implants For Young Children And Infants
Funder
National Health and Medical Research Council
Funding Amount
$452,843.00
Summary
The cochlear implant (bionic ear) has revolutionised communication for children with profound hearing loss. Nevertheless, children with the standard single implant still face huge challenges in educational and social settings. Difficulties include understanding speech that is soft, or speech in noisy environments, such as the classroom. Also, with one implant, children cannot locate the source of sound, such as the speaker in a group conversation, team-mates during sport, or an oncoming car. Res ....The cochlear implant (bionic ear) has revolutionised communication for children with profound hearing loss. Nevertheless, children with the standard single implant still face huge challenges in educational and social settings. Difficulties include understanding speech that is soft, or speech in noisy environments, such as the classroom. Also, with one implant, children cannot locate the source of sound, such as the speaker in a group conversation, team-mates during sport, or an oncoming car. Research with other normal hearing and hearing impaired groups suggests that two (bilateral) implants may possibly improve performance in these conditions. Although hundreds of children worldwide have received bilateral implants, very limited evidence is available to indicate whether two implants are significantly better than one, especially for young children. The main aim of the research is to evaluate the improvement in listening performance when young children and infants use two implants as compared with one. An additional aim is to gain clinical knowledge of bilateral implant use in order to develop selection criteria and management protocols for young bilateral candidates in the future. Results of this research will determine if bilateral implants should become a standard option for young children at the RVEEH-University of Melbourne Implant Clinic. The results will be published and presented internationally to influence clinical practice worldwide. All children using a cochlear implant, or in need of one in the future, will benefit as the study outcomes will indicate the best choice of hearing devices for individual children, and help to determine best-practice management if bilateral implants become an option for all children.Read moreRead less
The Role Of Non-coding RNAs In Development And Disease.
Funder
National Health and Medical Research Council
Funding Amount
$420,872.00
Summary
We have discovered a new mechanism by which genome activity is regulated. This project will test the hypothesis that this mechanism is critical for cell growth and embryonic development. It has the potential to identify new causes of birth defects and may also be relevant to understanding the etiology of other diseases such as cancer, resulting in improvements in diagnosis and management of disorders that present a major health care burden.
Strabismus is the pathological misalignment of the eyes associated with loss of binocular vision and is one of the most common human ophthalmological disorders. Patients with comitant strabismus have full eye movements, whereas patients with incomitant strabismus have limited eye movements, which causes the angle of strabismus to vary with gaze direction. This project aims to define genetic contributors to comitant congenital strabismus.