The Role Of Centromere Defects In Cancer Formation And Progression
Funder
National Health and Medical Research Council
Funding Amount
$601,386.00
Summary
When cells divide, their DNA must be copied and distributed faultlessly into the new cells. Defects in the factors that control this process will result in serious health problems including cancer. The objective of this project is to identify what these factors are and study how they contribute to cancer. Results gained from this project are expected to significantly increase our understanding of how cancer cells control the replication of their DNA and therefore their own fate.
Sex Chromosome Instability In Disorders Of Development
Funder
National Health and Medical Research Council
Funding Amount
$627,633.00
Summary
Chromosomes must be copied and distributed faultlessly into the newly dividing cells for normal development to occur. Factors that affect this process are often associated with health problems such as birth disorders, cancer, premature aging and infertility. This project plans to identify genetic factors that compromise the faithful transmission of chromosomes from cell to cell. Results gained from this project will greatly assist in the diagnosis of chromosome-related disorders.
Genomic Signposts, High-resolution Sequencing And Novel Genes In Eye Disease
Funder
National Health and Medical Research Council
Funding Amount
$333,694.00
Summary
Blindness is a very distressing sensory loss. Hereditary eye disorders account for the vision impairment in at least one-third of people who are registered as blind. These disorders cause blindness from a young age and work productivity is significantly impaired. This project will identify novel genetic factors in blinding eye disorders. Identifying these genetic factors will lead to better early detection methods for people and improved treatments to prevent the blindness.
Chromosomes must be copied and distributed faultlessly into the newly dividing cells for normal development to occur. Factors that affect this process are often associated with health problems such as birth disorders, cancer, premature aging and infertility. This project plans to identify genetic factors that compromise the faithful transmission of chromosomes from cell to cell. Results gained from this project will greatly assist in the diagnosis of chromosome-related disorders.
A Universal Clinical Test For Gene Fusions In Blood Cancer
Funder
National Health and Medical Research Council
Funding Amount
$628,001.00
Summary
Mis-repair of broken chromosomes results in gene fusion and is a common feature of blood cancers. Current tests are only capable of detecting well-known gene fusions and are incapable of identifying new fusion events or fusion variations. We have developed a scientific technique, termed CaptureSeq, that can address these issues. We propose to use this technique as the foundation for a single clinical test for blood cancers, capable of detecting all possible fusion variations – known and unknown.
Using Mouse Models To Decipher The Function Of Caspase-2 In Limiting Aneuploidy Tolerance And Cancer
Funder
National Health and Medical Research Council
Funding Amount
$871,162.00
Summary
Aneuploidy or abnormal chromosome number is a feature of cancer cells. The extent of aneuploidy is often predictive of prognosis and the effectiveness of cancer treatment. We discovered that a tumour suppressing protein, caspase-2, is important for deleting aneuploid cells that may otherwise become cancerous. In this project we will use cancer models to decipher how caspase-2 safeguards against aneuploidy and cancer to better understand how cancer cells can survive and be targeted for treatment.
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
Balance disorders are very common, but particularly in those conditions that involve the brain 'balance centres' are often difficult for doctors to diagnose. When diseases are difficult to diagnose, then recommending helpful treatment is particularly challenging. We will use a group of specialized tests to better understand these balance conditions in order to help patients receive accurate diagnoses and therefore, better treatment.
Clinical And Neurobiological Predictors Of Onset Of Major Mental Disorders (mania, Psychosis, Severe Depression), And Associated Functional Impairment, In Adolescent And Young Adult Twins: A Prospective Longitudinal Study
Funder
National Health and Medical Research Council
Funding Amount
$1,356,103.00
Summary
The Brisbane Twin Study is a prospective twin study tracking the real-time developmental trajectories of the onset of anxiety, mood, psychotic or substance misuse disorders through adolescence and young adulthood. This unique study has now reached the point where reassessment (after 20 years) can be performed. We will now determine the extent to which outcomes are predicted by neurobiological and genetic markers. This information is critical to prevention or early intervention strategies.
Dopamine-2 Receptor Antibody In Movement And Psychiatric Disorders
Funder
National Health and Medical Research Council
Funding Amount
$415,783.00
Summary
Autoimmune movement and psychiatric disorders are a common cause of neurological disability young adults and adolescents. We have identified a subgroup of patients whose disease is associated with an autoimmune reaction. Our study will identify the earliest immune responses against the brain in children with autoimmune movement and psychiatric disorders. Identifying these early immune responses will allow early and directed treatments to prevent disability and death in the future.