Nigel G Laing, NH&MRC Principal Research Fellowship: Neurogenetics – Gene Discovery, Pathobiology, Novel Therapeutics, Novel Diagnostics And Translation.
Funder
National Health and Medical Research Council
Funding Amount
$880,454.00
Summary
My Fellowship will expand my work identifying diseases genes for genetic muscle and nerve diseases by using new technologies that allow discovery of human disease genes which could not be found before. In addition, since we now have proof from mouse studies that heart actin is a target for therapy for the group of diseases that we discovered caused by mutations in the muscle actin protein, we shall take further steps towards making this therapy a reality for patients.
Towards Adequate National Provision Of Genomic Testing In Pregnancy
Funder
National Health and Medical Research Council
Funding Amount
$515,493.00
Summary
Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential ....Genomic information about unborn children can now be provided using chromosomal microarrays which have the potential to revolutionize maternal care in Australia, but are currently only used in high risk pregnancies. Soon all pregnant women, the vast majority who currently have prenatal screening, will be able to access this and other genomic technologies. We will examine the psychological impact of fetal genomic testing and, in doing so, assess the need for service planning, as well as potential legal and policy changes in Australia.Read moreRead less
Inherited Muscle Disorders - Gene Discovery, Pathobiology And Therapy.
Funder
National Health and Medical Research Council
Funding Amount
$1,750,277.00
Summary
The project proposed by Professors Nigel Laing and Kathryn North and Dr Kristen Nowak is based upon the results of their successful identification of disease genes for genetic muscle diseases. The project is divided into three parts. In the first part of the project, the research team will identify further novel disease genes, some of which they are already close to finding. In the second part of the project the team will determine how the mutations they have identified in the disease genes actu ....The project proposed by Professors Nigel Laing and Kathryn North and Dr Kristen Nowak is based upon the results of their successful identification of disease genes for genetic muscle diseases. The project is divided into three parts. In the first part of the project, the research team will identify further novel disease genes, some of which they are already close to finding. In the second part of the project the team will determine how the mutations they have identified in the disease genes actually cause the diseases. The aim of this work is to discover targets that may ultimately lead to new therapies for these muscle diseases. In the third and final part of the project, the team will pursue one possible therapeutic approach, which is based upon the understanding of the diseases the researchers have gained from their previous studies. There are currently no cures for these muscle diseases, though symptoms can be treated. The team will determine whether heart actin can replace muscle actin in skeletal muscle and thus might treat the muscle disease.Read moreRead less
Improving Communication And Informed Decision Making In Prenatal Screening And Diagnostic Testing Among Women And Couples With Lower Education And Literacy
Funder
National Health and Medical Research Council
Funding Amount
$329,115.00
Summary
It is widely accepted that women and couples should be given balanced information to help them make informed choices about undergoing tests to screen for, and diagnose, genetic conditions such as Down syndrome. Current information, however, requires high reading levels and is not suitable for low literacy groups. This research aims to develop and evaluate information to support women and couples with lower education and literacy in making informed choices about prenatal screening and testing.
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