Transforming The Diagnosis And Management Of Severe Neurocognitive Disorders Through Genomics
Funder
National Health and Medical Research Council
Funding Amount
$2,499,330.00
Summary
Neurocognitive disorders (NCD) are one of the most common genetic conditions in our society and it results with a need for ongoing permanent care for many affected people. Until recently, only 30% of people with NCD could be diagnosed but this has changed with the availability of genomic testing where all genes can be tested at once. The use of genomics in the CRE will lead to new NCD genes being identified and this information being translated into a clinical setting.
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.
Identification Of Genes For X-linked Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$675,228.00
Summary
We propose to identify novel heritable causes of intellectual disability using 22 large and well-characterised families from Australia. In these families we have refined the location of the genetic defect to the chromosome X and excluded the contribution of all so far known genes. We will achieve this using the technology of massive parallel sequencing. At the completion of the project we will have identified novel causes of intellectual disability and devised tests to identify them.
The Role Of UPF3B And Nonsense Mediated MRNA Decay Surveillance In The Pathology Of Intellectual Disability.
Funder
National Health and Medical Research Council
Funding Amount
$789,954.00
Summary
Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundam ....Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.Read moreRead less
A Sequential Multiple Assignment Randomised Trial (SMART) Of Nursing Interventions To Reduce Pain Associated With Chemotherapy Induced Peripheral Neuropathy
Funder
National Health and Medical Research Council
Funding Amount
$713,418.00
Summary
Modern chemotherapy treatments can result in damage to the peripheral nerves, resulting in a condition called peripheral neuropathy. This condition is characterised by a range of sensory and functional changes that can cause pain and reduced ability to perform daily activities. This project will test various non-pharmacological pain management measures to determine if they are effective in improving the quality of life of patients who experience this problem.
The Effectiveness Of A Responsible Hospitality Audit And Feedback Intervention To Reduce Alcohol Related Harm
Funder
National Health and Medical Research Council
Funding Amount
$466,875.00
Summary
Alcohol is a major cause of death, injury and illness in Australia accounting for over 3,000 deaths and over 72,000 hospital admissions each year. Excessive drinking is estimated to cost the Australian community $7,560 million each year, representing 22% of all drug-related harm. Alcohol is a significant contributor to the occurrence of violence and crime. It is estimated that up to 70% of incidents attended by the police, and 77% of street offences such as assaults and malicious damage to prope ....Alcohol is a major cause of death, injury and illness in Australia accounting for over 3,000 deaths and over 72,000 hospital admissions each year. Excessive drinking is estimated to cost the Australian community $7,560 million each year, representing 22% of all drug-related harm. Alcohol is a significant contributor to the occurrence of violence and crime. It is estimated that up to 70% of incidents attended by the police, and 77% of street offences such as assaults and malicious damage to property, are alcohol-related. It is also estimated that 70% to 80% of night-time single-vehicle accidents are alcohol-related. A large proportion of assaults, offensive behaviour, malicious damage to property and drink driving occur following excessive drinking at licensed premises such as hotels and registered clubs. The risk of harm arising from the consumption of alcohol on licensed premises can be reduced by modifying such factors as service of alcohol to intoxicated patrons, service-supply of alcohol to underage patrons, management practices (eg. late closing) and environmental factors (eg. poor lighting). Auditing of licensed premises is an approach currently used by authorities to ensure compliance with licensing requirements. However, such audits do not focus on harm reduction and do not incorporate best practice audit and behaviour change features. No controlled studies have reported the effectiveness of such an audit approach in reducing the risk of violence and crime emanating from hotels and registered clubs. The proposed study aims to assess the effectiveness of a Responsible Hospitality Audit and feedback intervention in reducing service to intoxicated and underage patrons, and in reducing assaults-malicious damage to property following alcohol consumption on licensed premises. The outcomes of this study will be improved responsible service of alcohol actions and reduced alcohol-related crime associated with premises.Read moreRead less
Randomised Double-blind Controlled Trial Of Oxygen Versus Air To Palliate Intractable End-of-life Dyspnoea When Pa02 >55
Funder
National Health and Medical Research Council
Funding Amount
$463,318.00
Summary
Shortness of breath at the end-of-life is one of the most feared symptoms. Unlike most other symptoms, it worsens as death approaches. Despite the fact that more than 50,000 Australian will die an expected death in the next year, of whom the majority will have breathlessness toward the end-of-life, we know little about how best to treat this symptom. Oxygen is frequently introduced but we have not identified whether it is more effective than medical air, and, if it is more effective, which patie ....Shortness of breath at the end-of-life is one of the most feared symptoms. Unlike most other symptoms, it worsens as death approaches. Despite the fact that more than 50,000 Australian will die an expected death in the next year, of whom the majority will have breathlessness toward the end-of-life, we know little about how best to treat this symptom. Oxygen is frequently introduced but we have not identified whether it is more effective than medical air, and, if it is more effective, which patients would most benefit from it. Because of this lack of evidence, oxygen is only funded in Australia in community settings for people who have severely low oxygen levels in their blood. Palliative oxygen is provided on a compassionate basis at times but this is on an ad hoc basis and does not ensure equitable access for people at the end of life who experience shortness of breath. This multi-centre study will compare oxygen and air, with neither the participant nor caring clinicians knowing which treatment they will receive. After careful explanation, volunteers who agree to participate will be asked to use the oxygen machine for at least 15 hours each day for 7 days and fill out a diary twice each day. Five centres across Australia are planning to enroll 240 participants in this study. Outcomes will include whether the sensation of breathlessness has improved, the overall quality of life while being treated, the ability to perform activities of daily living and any side effects experienced. This study is eagerly awaited by clinicians and health planners not only in Australia but in North America and Europe. This study will provide data in a long-standing international debate about the role of oxygen in people with relatively normal levels of oxygen in their blood who suffer from shortness of breath at the end-of-life.Read moreRead less
Understanding The Risk Factors And Burden Of Heart Disease And Stroke For Aboriginal And Torres Strait Islander Women
Funder
National Health and Medical Research Council
Funding Amount
$86,117.00
Summary
Heart disease and stroke is the leading cause of death for Aboriginal and Torres Strait Islander people, and accounts for over one quarter in the life expectancy gap. A recent survey found that 59% of Aboriginal and Torres Strait Islander women live with heart disease or stroke. This PhD seeks to understand the risks of, and hospitalisation and mortality from heart disease and stroke in Aboriginal and Torres Strait Islander women. The project is guided by a women’s Advisory Group.
Health Impacts Of Sleep Apnea In Australian Men- A Longitudinal Population Study.
Funder
National Health and Medical Research Council
Funding Amount
$312,056.00
Summary
Obstructive sleep apnea (OSA) is very common, seen in 60-70% of men over 40 years old. OSA is linked to a number of serious conditions, e.g. heart disease and diabetes. However, we don't know which men are at risk of long term complications from OSA. Our aim is to follow-up men from a community sample of 1000 men who had sleep studies in 2010 to help identify who is at risk of poor health from OSA.
Linking Place To Metabolic Syndrome Via Behavioural And Psychological Antecedents: Levers For Public Health Intervention
Funder
National Health and Medical Research Council
Funding Amount
$295,135.00
Summary
This collaboration involves the SA Health Department and community partners in analyses of local data from a 10-year biomedical cohort to (i) identify features of residential areas that are related to the metabolic syndrome and (ii) assess the mechanism by which area features influence metabolic syndrome through effects on behavioural and psychosocial mediators. The knowledge generated will inform policy intervention via urban planning and public health actions to support healthful lifestyles.