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.
Improving First Trimester Screening By Combining Rapid MF-PCR Of PAP Smears With Nuchal Ultrasound Scanning
Funder
National Health and Medical Research Council
Funding Amount
$206,809.00
Summary
Genetic defects are the major cause of embryonic and foetal death as well as being responsible for a large proportion of childhood disabilities. Although many are detected by the ~50,000 prenatal tests currently performed annually in Australia, these methods are only offered to high risk mothers because they are invasive (~1% risk of miscarriage), and-or expensive. A rapid, low cost, less invasive and safer alternative prenatal diagnostic method such as PAP smears that could be offered to all mo ....Genetic defects are the major cause of embryonic and foetal death as well as being responsible for a large proportion of childhood disabilities. Although many are detected by the ~50,000 prenatal tests currently performed annually in Australia, these methods are only offered to high risk mothers because they are invasive (~1% risk of miscarriage), and-or expensive. A rapid, low cost, less invasive and safer alternative prenatal diagnostic method such as PAP smears that could be offered to all mothers regardless of risk is therefore of immense value both to mothers and to the health care system. This proposal enhances first trimester screening by improving prenatal diagnosis from PAP smears. Although normally taken to detect cancer, these smears contain significant numbers of foetal cells. We will investigate: the best way and time to obtain these cells, the best way to remove the cells from any contamination, improvements in genetic diagnosis of these cells using a technique known as MF-PCR which is rapidly revolutionising conventional prenatal diagnosis. By automating these procedures, they will become less expensive and more accessible to all mothers regardless of risk. We will also compare these procedures with alternative first trimester screening techniques such as nuchal translucency to determine the value of both tests singly and in combination. This research should provide a safe, reliable and accurate method allowing inexpensive prenatal screening to be available for all pregnancies. General screening programmes using this new test, particularly if combined with nuchal translucency programmes, would result in a dramatic reduction in affected babies with major implications to families and the health care system.Read moreRead less
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