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.