Novel Genomic Approaches To Identify The Missing Genetics Underlying Skeletal Muscle Disease.
Funder
National Health and Medical Research Council
Funding Amount
$1,935,965.00
Summary
Skeletal muscle diseases can result in death in infancy or cause life-long and significant physical disability. Many families do not have a genetic explanation for their condition. We will use established and new technologies to find the missing genetics causing these devastating diseases. Our work has world-wide impact for the patients and families affected by these diseases.
Investigating A New Regulator Of Cardiac Rhythm In Development And Disease
Funder
National Health and Medical Research Council
Funding Amount
$1,022,704.00
Summary
Cardiac arrhythmias affect a high proportion of the population (2-5%) and can cause sudden death. Whilst the aetiology of arrhythmia can vary, there are clear genetic causes. Unfortunately, our knowledge of the genetic contributors is incomplete, hampering efforts to interpret genetic sequencing information. This project will undertake functional analyses of a novel arrhythmia gene and establish where, when and how it is required for correct cardiac rhythm.
A Practice Change For Patients With Severe Chronic, Clinically Unexplained Gastrointestinal Symptoms: A Randomised, Controlled Intervention To Assess Efficacy And Cost-effectiveness
Funder
National Health and Medical Research Council
Funding Amount
$1,276,080.00
Summary
Unexplained chronic gastrointestinal symptoms are extremely common and costly to the health system. Currently patients are managed in the hospital setting with the 'typical' face-to-face office-based model which sees the clinician spending valuable time gathering information and often treatments (e.g. allied health) delivered in a non-standard way. This project will evaluate the effectiveness of a new standard best-practice clinical model with a structured technology enabled management approach.
Cerebral Blood Flow During Psychogenic Non-epileptic Seizures.
Funder
National Health and Medical Research Council
Funding Amount
$397,322.00
Summary
We don't understand what happens during a non-epileptic seizure. Patients can't tell us and we can't use normal brain scanning during a seizure as the patient moves too much. Our idea is to take patients with non-epileptic seizures on the epilepsy wards who are being monitored and inject them with a radioactive tracer as soon as the seizure starts, then we can scan them afterwards to see what parts of their brain were active during the seizure, so we will understand what was happening.
Advancing The Spatial Analysis Of Cells In Tissues To Profile The Tumour Microenvironment
Funder
National Health and Medical Research Council
Funding Amount
$187,918.00
Summary
Tumours are composed of a mix of different cells, including cancer cells, immune cells and other cells supporting tumour growth. These cells are not organised randomly, but rather are distributed in specific patterns. Here we will develop computational methods to detect these patterns and determine what statistical tests should be used to compare samples. This project will give us the tools to investigate how the location of cells in tissues relates to treatment response and survival.
Identifying Unintentional Effects Of Medication Using Statistical Genetics Analyses Of Large-scale Genetic And Genomic Data
Funder
National Health and Medical Research Council
Funding Amount
$251,441.00
Summary
An increasing number of studies have highlighted unknown adverse effects of medication, for example, use of statins to lower cholesterol with increased risk of type 2 diabetes. The gold standard approach to confirm these effects is randomised control trials, which may not always be feasible or ethical, and are very expensive. This project aims to apply innovative statistical genetics approaches to (genetic and genomic) 'big-data' to predict unknown effects of commonly prescribed medications.
Sudden cardiac death (SCD) is a devastating consequence of a number of heart diseases. Underlying causes include inherited heart muscle problems (cardiomyopathies), with no cause found in 40%. Our study will investigate the role of 'concealed cardiomyopathy' cases, i.e. those with a SCD event with no evidence of heart disease, but carry errors in heart genes. Our findings will translate rapidly into more targeted clinical and genetic evaluation of families with the ultimate goal to prevent SCD.
Biomechanics Meets Phenomics: Towards Understanding And Predicting Abdominal Aortic Aneurysm (AAA) Disease Progression
Funder
National Health and Medical Research Council
Funding Amount
$1,324,897.00
Summary
The criterion used to decide whether to operate on an abdominal aortic aneurysm (AAA), based on the maximum diameter, does not take into consideration the rupture risk for a given patient. By combining imaging, computational biomechanics and metabolic phenotyping, we will assess the structural integrity of an AAA and local structural changes of systemic response. These will allow improved differentiation of rupture risk, leading to better outcomes for patients and savings for the health system.
ARX- A Hub Gene For A Common Biological Pathway In Schizophrenia
Funder
National Health and Medical Research Council
Funding Amount
$707,974.00
Summary
Schizophrenia is a severe psychiatric disorder with no cure. I have identified that some people with schizophrenia show variations to a gene called ARX. This project will use preclinical mouse models to explore how variations to the Arx gene affect brain molecules, networks of cells and behavioural outcomes. This biological pathway will provide the framework for the identification of new molecules to target therapeutically to modify the biological course of schizophrenia and improve outcomes.