Evaluation Of Unclassified Variants Of BRCA1 And BRCA2 Using A Multifactorial Approach
Funder
National Health and Medical Research Council
Funding Amount
$456,495.00
Summary
The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that may slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of th ....The major genes that predispose to hereditary breast cancer are called BRCA1 and BRCA2. Most mutations in these genes cause the protein product to be truncated and inactive. However there are many families in which such truncating mutations are not found, but instead there are sequence changes that may slightly alter the protein product. It is often difficult to predict whether these sequence variants are likely to cause hereditary breast cancer simply by looking at the position and nature of the sequence change. Consequently, it is not possible to offer informative genetic counselling to these women or their at-risk family members. Assessment of the potential pathogenicity and functional significance of these unclassified sequence variants will be directly useful with regard to the clinical management of these women and their families, and will develop our current understanding of how different domains of these genes contribute to their role as cancer susceptibility genes. In addition, some of our experiments to classify variants may be useful as a screening tool to identify carriers of mutations, and so prioritize them for mutation screening.Read moreRead less
Creating An Empirically Based Classification System For Mental Illness
Funder
National Health and Medical Research Council
Funding Amount
$645,205.00
Summary
Mental disorders are typically diagnosed using a set of strictly agreed diagnostic criteria. For example, in the DSM-5 a major depression diagnosis requires at least five of nine symptom criteria to be met. However, the DSM-5 is now widely agreed to have important limitations for the work of researchers and clinicians. My research will overcome those limitations by completing a data-driven classification system based on the patterns in the ways people experience symptoms of mental illness.
A Dimensional-spectrum Model Of Mental Disorders: Developing New Assessments To Improve The Diagnostic Validity Of Multiple Mental Disorders
Funder
National Health and Medical Research Council
Funding Amount
$311,860.00
Summary
Advances in the scientific literature have highlighted that significant improvements to validity and clinical utility can be made through the use of a dimensional-spectrum model of psychopathology. To encourage the future use of the dimensional-spectrum model, the current research project aims to develop and test an innovative and novel assessment tool for diagnosing mental disorders in community and clinical populations using a dimensional-spectrum model as the guiding theoretical framework.
A Multi-site Randomised Controlled Trial Comparing The Severity Of Constipation Symptoms Experienced By Palliative Care Patients Receiving Usual Care Compared To Those Diagnosed And Managed According To The Underlying Pathophysiology.
Funder
National Health and Medical Research Council
Funding Amount
$498,795.00
Summary
This research aims to consider whether the problems of constipation in palliative care are less severe when the physical changes that underlie the problem are explored.
I am a scientist aiming to improve health outcomes by facilitating the collection and unification of data on human genetic variation together with its clinical impact on human health.
Better Data To Inform Interventions To Reduce The Risk Of Stillbirth In Australia
Funder
National Health and Medical Research Council
Funding Amount
$75,830.00
Summary
Stillbirth is a devastating experience for parents and families. Paucity of high quality data on causes and contributing factors is a major barrier to the development of research priorities and interventions to prevent stillbirths and improve the quality of care. This research will be a connected body of work that aims to better describe the epidemiology of stillbirth in Australia, contribute to the classification of stillbirths and determine the needs of parents in relation to autopsy consent.
Oxidation Of Mismatch: A New Concept For Mutation Detection Which Avoides A Separation Method In Mutation Scanning
Funder
National Health and Medical Research Council
Funding Amount
$143,000.00
Summary
Detection of faults (mutations) in genes is expensive but essential for proper genetic health care. Because of the cost of such tests many people are not diagnosed either through diagnostic labs or research of the cost of such tests many people are not diagnosed either through diagnostic labs or research projects. Such research projects are inhibited due to the complexity of the current methods. Current methods are complex and expensive, especially looking for a possible fault, due to what is ca ....Detection of faults (mutations) in genes is expensive but essential for proper genetic health care. Because of the cost of such tests many people are not diagnosed either through diagnostic labs or research of the cost of such tests many people are not diagnosed either through diagnostic labs or research projects. Such research projects are inhibited due to the complexity of the current methods. Current methods are complex and expensive, especially looking for a possible fault, due to what is called a preparation step on complex and expensive equipment. We will develop and commercialise a simpler test because separation is avoided.Read moreRead less