A SYSTEMS BIOLOGY APPROACH TO SCREENING, DIAGNOSIS AND PROGNOSIS FOR LYSOSOMAL STORAGE DISORDERS
Funder
National Health and Medical Research Council
Funding Amount
$900,781.00
Summary
Lysosomal storage disorders (LSD) are inherited and, at present, can only be detected in children after symptoms are obvious. We are developing newborn screening for LSD to detect affected babies before the onset of irreversible symptoms. As most LSD babies appear normal at birth it is important to be able to predict disease severity or rate of disease progression; this will help doctors know when to give therapy, which therapy is best and provide families with appropriate genetic counseling.
Molecular Classification Of Carcinoma Of Unknown Primary
Funder
National Health and Medical Research Council
Funding Amount
$418,250.00
Summary
Carcinoma of unknown primary (CUP) is the fourth largest cause of cancer death. The condition has a particularly poor outlook, with a median survival of less than one year. Current methods for diagnosis of CUP include histopathology and sophisticated imaging. These are successful in approximately 40% of cases. Frequently the reason for the poor outcome in this disease is that the 60% of patients with CUP for whom no diagnosis is made do not benefit from chemotherapy specifically designed for a p ....Carcinoma of unknown primary (CUP) is the fourth largest cause of cancer death. The condition has a particularly poor outlook, with a median survival of less than one year. Current methods for diagnosis of CUP include histopathology and sophisticated imaging. These are successful in approximately 40% of cases. Frequently the reason for the poor outcome in this disease is that the 60% of patients with CUP for whom no diagnosis is made do not benefit from chemotherapy specifically designed for a particular tumour origin. These patients receive a less effective, generic, chemotherapy. The aim of this project is to use microarrays to identify the gene expression profile in many known tumours to create a molecular fingerprint of the various tumour types. By comparing the fingerprint from a CUP with the database we should be able to identify the true tumour type in CUP, and allow patients to benefit from more specific chemotherapy.Read moreRead less
A Stable Protein:DNA Complex For Development Of Ultrasensitive Diagnostics In Multiplex Format
Funder
National Health and Medical Research Council
Funding Amount
$521,961.00
Summary
A new technology platform will be developed to carry out diagnostic tests in a multiplex format with increased sensitivity and precision. We recently discovered a very strong interaction between a protein and a particular fragment of DNA. This interaction can be tuned to enable its use for the simultaneous detection of different disease markers in a single assay. This will improve the time and space needed to perform diagnostic tests in laboratories.
A Methylation-Based Assay For The Detection Of Prostate Cancer Cells
Funder
National Health and Medical Research Council
Funding Amount
$303,712.00
Summary
Prostate Cancer is a major cause of death and morbidity among men in the western world. Little is understood of the early events that lead to the development of prostate cancer though recent evidence suggests that a modification of the DNA called methylation may be an early indictor of disease. Our current work has shown that a gene involved in the detoxification of the cell (called GST) is switched off in over 90% of prostate cancers by this DNA modification. We have studied the methylation pat ....Prostate Cancer is a major cause of death and morbidity among men in the western world. Little is understood of the early events that lead to the development of prostate cancer though recent evidence suggests that a modification of the DNA called methylation may be an early indictor of disease. Our current work has shown that a gene involved in the detoxification of the cell (called GST) is switched off in over 90% of prostate cancers by this DNA modification. We have studied the methylation pattern of the GST gene in prostate cancer and normal prostate tissue and found that the GST gene is modified exclusively in the cancer tissue . This important information has allowed us to design a test to specifically identify prostate cancer cells by assaying for GST modification . In this grant we plan to further optimise this test to ensure its sensitivity and reliability. In particular we plan to compare the effectiveness of our methylation-based test to the PSA and other tests currently used for the detection of prostate cancer. In addition we plan to identify other genes that also may be switched off specifically in prostate cancer by DNA methylation. This data will allow the development of new markers and approaches to stage the progression of prostate and possibly other cancers.Read moreRead less