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The Neurovascular Territories Of The Human Body: Anatomic Study And Clinical Applications
Funder
National Health and Medical Research Council
Funding Amount
$186,650.00
Summary
A Melways Roadmap of the anatomy of the large and small nerves, arteries and veins of the human body is underway and will take a further three years to complete. The aim is to evolve or modify Reconstructive Plastic Surgery techniques taking tissue from a hidden site and, where possible, include a nerve supply with the transplant so that feeling can be restored to skin flaps and function to transferred muscle. The fundamental objective is to improve the quality of the patients life. We have alre ....A Melways Roadmap of the anatomy of the large and small nerves, arteries and veins of the human body is underway and will take a further three years to complete. The aim is to evolve or modify Reconstructive Plastic Surgery techniques taking tissue from a hidden site and, where possible, include a nerve supply with the transplant so that feeling can be restored to skin flaps and function to transferred muscle. The fundamental objective is to improve the quality of the patients life. We have already completed a thorough examination of the following regions: (i) head and neck (ii) forearm (iii) leg These have received international acclaim and awards. We are currently examining: (i) hand and foot (ii) thigh and buttock. Still to be commenced: (i) arm and shoulder (ii) torso (iii) back. Reconstructive surgery involves the treatment and the reconstruction of defects throughout the whole human body. These defects may arise in any member of the family. With modern reconstructive techniques a problem can often be solved in one operation thus avoiding multiple operations and long periods of hospitalisation which can be devastating to both patient and family. These new techniques nevertheless have demanded a reappraisal of the basic sciences, especially the anatomy of the blood and nerve supply to the potential transplant. This is essential so that they can be designed with not only precision and safety but in such a way that there is minimal disability at the donor site. As well as restoring shape and form, the patient can have tremendous improvement in quality of life and independence if function is also restored. In order to provide function (feeling and movement) a working nerve supply must be included in the reconstruction. Therefore our research must continue to investigate the complex patterns of nerve supply to tissues of the body and correlate this information with the blood supply which is needed to keep the tissue alive.Read moreRead less
Molecular And Clinico-pathological Investigation Of Congenital Myopathies
Funder
National Health and Medical Research Council
Funding Amount
$743,290.00
Summary
Congenital myopathies are inherited disorders causing muscle weakness from birth. Some types lead to early death of the affected child, while others are compatible with life to adulthood. Like any disease of childhood, the congenital myopathies cause considerable trauma to the families concerned. Couples at risk of having another affected child frequently wait for prenatal diagnosis to become available for their particular disease before attempting to have further children. However, prenatal dia ....Congenital myopathies are inherited disorders causing muscle weakness from birth. Some types lead to early death of the affected child, while others are compatible with life to adulthood. Like any disease of childhood, the congenital myopathies cause considerable trauma to the families concerned. Couples at risk of having another affected child frequently wait for prenatal diagnosis to become available for their particular disease before attempting to have further children. However, prenatal diagnosis is only possible once the gene causing a disorder and the mutation in an individual family are identified. In the past, the Laboratories collaborating in this project, the Molecular Neurogenetics Laboratory, Australian Neuromuscular Research Institute, Perth, and the Neurogenetics Research Unit, New Children s Hospital, Sydney, have identified disease genes for congenital myopathies. Prenatal diagnosis is now possible for families whose disease-causing mutation is identified. However the genetic cause of many of the congenital myopathies remains unknown. DNA and other samples have been sent to the Laboratories from around the world, making us reference centres for congenital myopathy research. Part one of the project is to study these and Australasian samples, to identify other congenital myopathy genes. This will help families who currently cannot have prenatal diagnosis. Finding the genes also increases understanding of the diseases by clarifying which proteins are involved. In part two of the project we shall study the mutated proteins, to try to unravel how the gene mutations cause the diseases. The third part of the project is to reevaluate the highly variable muscle pathology in congenital myopathies in cases where the disease gene is now known, in order to investigate genotype-phenotype correlations. Understanding the pathologic basis of the congenital myopathies will ultimately allow us to begin to think rationally about possible treatments.Read moreRead less
Hydatid disease is caused by a parasitic infection that is transmitted to people by animals. The disease causes substantial human morbidity and mortality worldwide, and is endemic in Australia. Currently available drugs are poorly effective against the parasite and treatment of the disease relies mainly on surgical removal of often large parasitic cysts, where this is possible. Blood tests to identify people who are infected rely on the use of parasite samples obtained from animals, which leads ....Hydatid disease is caused by a parasitic infection that is transmitted to people by animals. The disease causes substantial human morbidity and mortality worldwide, and is endemic in Australia. Currently available drugs are poorly effective against the parasite and treatment of the disease relies mainly on surgical removal of often large parasitic cysts, where this is possible. Blood tests to identify people who are infected rely on the use of parasite samples obtained from animals, which leads to difficulties with adequate supply of material and quality control. Research in this laboratory discovered that the hydatid parasite produces a protein that binds the drug cyclosporin A and that specific antibodies are made to this protein in hydatid patients. Preliminary research by others found that cyclosporin A had anti-parasitic effects on hydatid disease in an animal model system. This research project will examine in detail the characteristics of the cyclophilin protein and related proteins, in the hydatid parasite, their interaction with cyclosporin A, the effects of cyclosporin A on the parasite in defined culture conditions, the mechanism by which cyclosporin A exerts anti-parasitic effects and the prospects for use of cyclophilin in tests for the diagnosis of human hydatid disease. The research will contribute to a better understanding of the basic biology of this pathogen and may identify improved methods for the chemotherapy and diagnosis of infection.Read moreRead less
Melanoma incidence continues to rise & it remains a leading cause of cancer death in young adults. Prevention & early detection are foundations of disease control. Drug treatments for advanced disease have recently begun to extend survival but remain ineffective in many. Utilising the extensive resources of Melanoma Institute Australia (world's largest melanoma treatment centre), this research seeks to improve outcomes of patients with difficult to treat & aggressive melanomas.
A Prospective Study Of Parental Outcomes Following Prenatal Or Postnatal Diagnosis Of Congenital Heart Disease
Funder
National Health and Medical Research Council
Funding Amount
$289,400.00
Summary
Congenital heart disease (CHD) is the leading non-infectious cause of infant death in Australia. It is now possible to diagnose babies with CHD while in the womb. However, little is known about how parents respond to a diagnosis of CHD during pregnancy. This unique study will examine and compare parents' experiences following prenatal or postnatal diagnosis of CHD, with the aim of developing clinical services and resources for the supportive care of parents and their infants.
Early Detection Of Lung Cancer And Mesothelioma In Asbestos Workers At Highest Risk
Funder
National Health and Medical Research Council
Funding Amount
$623,268.00
Summary
Through no fault of their own, many Australian workers have been inadvertently exposed to asbestos and are at high risk of developing lung cancer and mesothelioma. With the peak incidence bearing upon us, there is an urgent need for early detection by CT.
Massively Parallel Sequencing And PCR Optimised For DNA-based Diagnostics And Discovery
Funder
National Health and Medical Research Council
Funding Amount
$201,664.00
Summary
The next generation of medical diagnostics and discovery in disease research will involve the marriage of PCR, a tool used to amplify large amounts of DNA from small starting quantities, and �next generation� sequencing, a way to sequence lots and lots of DNA on a single instrument run. This study aims to describe methods which allow scientists to screen hundreds of disease genes in hundreds of people simultaneously with high accuracy and high efficiency.
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.