Use Of The Norfolk Island Genetic Isolate For Disease Gene Mapping
Funder
National Health and Medical Research Council
Funding Amount
$978,500.00
Summary
This gene mapping study will use a unique founder effect population to investigate two major public health disorders. We aim to identify genes that play a role in migraine and in cardiovascular disease, using a population from Norfolk Island. The Norfolk Island community is a population of ~1200 permanent residents, the majority of whom are direct descendents of 18th century English Bounty mutineers and Polynesian women. We will undertake a full genome scan to identify migraine gene loci and QTL ....This gene mapping study will use a unique founder effect population to investigate two major public health disorders. We aim to identify genes that play a role in migraine and in cardiovascular disease, using a population from Norfolk Island. The Norfolk Island community is a population of ~1200 permanent residents, the majority of whom are direct descendents of 18th century English Bounty mutineers and Polynesian women. We will undertake a full genome scan to identify migraine gene loci and QTL that influence cardiovascular disease using samples from this population isolate.Read moreRead less
Clinical Utility Of A Novel Serum Marker, Serum Mesothelin Family Protein (SMF) In Mesothelioma Patients
Funder
National Health and Medical Research Council
Funding Amount
$323,250.00
Summary
Asbestos fibres can cause a number of cancers, one of the most aggressive and untreatable being mesothelioma. Unfortunately mesothelioma is largely resistant to the main forms of therapy: surgery, chemotherapy and radiation treatment. The average survival from diagnosis is only 8.5 months. It is sometimes difficult to diagnose mesothelioma and additional tests would be useful. Also, a simple screening test may be able to detect the earlier stages of this disease, and allow for early treatment, w ....Asbestos fibres can cause a number of cancers, one of the most aggressive and untreatable being mesothelioma. Unfortunately mesothelioma is largely resistant to the main forms of therapy: surgery, chemotherapy and radiation treatment. The average survival from diagnosis is only 8.5 months. It is sometimes difficult to diagnose mesothelioma and additional tests would be useful. Also, a simple screening test may be able to detect the earlier stages of this disease, and allow for early treatment, would be of widespread value to the community. Markers of cancer can be detected in the blood for a number of cancers e.g. prostate, colon, liver and ovary. No reliable serum marker for the presence of mesothelioma has been described and this study describes work aimed at further evaluating a novel marker that we have been researching in collaboration with a group from Seattle, USA. Mesothelin is a protein made in mesothelial tissue such as mesothelioma. When an individual develops mesothelioma the levels increase in the blood. Also, a proportion of individuals increased levels of this molecule can be detected prior to presentation. This means that it may become a useful screening tool in asbestos-exposed individuals and might be a clinical indicator of the need for further testing and, if early disease is found, early treatments. Given that early treatment of cancer is more effective than late treatment in most clinical situations, this is likely to improve the prognosis for this disease. For this marker to be clinically useful, a careful correlation between its level in the blood and the exact amount of tumour that is present (based on precised computerised tomography x-ray measurements of the tumour) are important. The findings of this study may have widespread implications for patients with mesothelioma and individuals at risk of developing mesothelioma after exposure to asbestos.Read moreRead less
Development And Validation Of A Finite Element Model For Orthopaedic Screw Insertion Into Trabecular Bone
Funder
National Health and Medical Research Council
Funding Amount
$420,454.00
Summary
Osteoporosis is a disease of the bones that results in reduced bone strength and susceptibility to fragility fractures. Due to the spongy nature of osteoporotic bone, surgeons face major difficulties in obtaining secure fixation of bone screws. Our aim is to develop and validate a computer model of orthopaedic screw insertion into trabecular bone based on micro-computed tomography image data. This will allow an assessment of the most appropriate screw designs for stable fixation of implants.
We will seek to address an important clinical problem in orthpaedics, namely the bone loss that commonly occurs around joint replacement prostheses. Termed peri-prosthetic osteolysis (PO), this bone loss can result in the loosening and ultimate failure and need for revision of the artificial joint components. PO is thought to be caused by the body's reaction to wear particles generated from the articulating surface of the prosthesis. However, it has not previously been possible to accurately exp ....We will seek to address an important clinical problem in orthpaedics, namely the bone loss that commonly occurs around joint replacement prostheses. Termed peri-prosthetic osteolysis (PO), this bone loss can result in the loosening and ultimate failure and need for revision of the artificial joint components. PO is thought to be caused by the body's reaction to wear particles generated from the articulating surface of the prosthesis. However, it has not previously been possible to accurately explore the relationship between prothesis wear and PO, or the progression of PO, because of a lack of techniques to image and measure the volume of PO around metal prosthesis components. We have developed a means to accurately and reproducibly measure the volume of bone loss, using CT, and will do so longitudinally in joint replacement patients to obtain the first information about the progression of PO. New computer based methods will be used concurrently to relate prosthesis wear and migration parameters to PO. Patients who come to surgery for replacement of failed prostheses will be investigated further by analysis of the tissues involved in the bone loss around prostheses. Basic science experiments will seek to understand the underlying causes of PO and the findings will be important in interpreting the clinical results. An animal model will be used to seek approaches to inhibiting the pathological response to wear particles. The significance of these studies is that they will lead to improved outcomes for joint replacement patients, increasing the interval to revision surgery, which is both extremely costly and brings an attendant morbidity and mortality.Read moreRead less