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Investigating The Role Of The UPF3B Gene And Nonsense Mediated RNA Decay (NMD) Process In Mental Retardation.
Funder
National Health and Medical Research Council
Funding Amount
$572,710.00
Summary
Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes c ....Intellectual disability is a frequent and important medical problem. Genetic and environmental factors contribute about equally to the aetiology of intellectual disability. Estimated 1-3% of population suffer from a form of intellectual disability. Among the genetic factors contributing to intellectual disability are genes, and their mutations, on one of the human chromosomes, chromosome X. We have been studying human X-chromosome genes for many years and discovered in excess of 20 novel genes causing various forms of intellectual disability. Surprisingly the number of genes, in which mutations cause various forms of intellectual disability is unexpectedly high. Just on the human X-chromosome we expect in excess of 200 such genes, which is nearly 30% of the gene content of this chromosome. We propose to study a novel gene, UPF3B, we recently identified to be mutated in a form of intellectual disability. The normal function of this gene and its protein is known to a certain extent. The UPF3B protein plays a role of a guardian of other genes in human (and also other species) cells. The role of the UPF3B protein is to prevent erroneous genetic information to be used for the building of proteins with potentially toxic effects to the organism. In our patients this process clearly malfunctions as a consequence of the damaged UPF3B gene. We propose to shed some more light in to the molecular intricacies of this process with the aim to better understand the mechanics of the process. Families, which participate in our studies and have this gene involved will benefit from the availability of direct test. Multiple other families around the world are also likely to benefit, now or in the future.Read moreRead less
Dissecting The Pseudoexfoliation Syndrome With Complementary Genetic, Proteomic And Biophysical Strategies
Funder
National Health and Medical Research Council
Funding Amount
$490,352.00
Summary
Pseudoexfoliation syndrome (PEX) is an eye condition in which flaky material deposits in the eye, greatly increasing the risk of cataract and glaucoma which can lead to blindness. PEX is also associated with heart disease, strokes and aneurysms. Cataract surgery in PEX patients has a higher rate of complications. In this project we will determine the nature of PEX material and why it forms. This knowlege will facilitate better diagnosis and treatment of PEX preventing associated blindness.
Developing new methods to retrieve and analyse preserved genetic information. This project will position Australia at the leading edge of research into preserved DNA, and will use innovative molecular biology approaches to develop a range of new forensic, archaeological and medical applications. It will build Australian knowledge and scientific capacity by developing core expertise and training personnel in areas important for biosecurity, customs and quarantine, forensics/counter-terrorism, and ....Developing new methods to retrieve and analyse preserved genetic information. This project will position Australia at the leading edge of research into preserved DNA, and will use innovative molecular biology approaches to develop a range of new forensic, archaeological and medical applications. It will build Australian knowledge and scientific capacity by developing core expertise and training personnel in areas important for biosecurity, customs and quarantine, forensics/counter-terrorism, and studies of climate change. It will also create and foster research innovation in molecular biology with spin-offs for evolution, archaeology, medical and conservation biology research, and will also encourage involvement with the rapidly expanding field of genomics and bioinformatics.Read moreRead less
Burden Of Rheumatic Heart Disease (RHD) And Impact Of Prevention Strategies: Comprehensive Evidence To Drive The RHD Endgame
Funder
National Health and Medical Research Council
Funding Amount
$960,655.00
Summary
Rheumatic heart disease is chronic damage to the heart valves caused by repeated bouts of acute rheumatic fever. Both are preventable, yet rates among Indigenous Australians are of the highest recorded. We propose to undertake the first multi-jurisdictional study of these conditions to determine trends in occurrence and evaluate the impact of existing interventions in Australia. Findings will be used to inform the development of a roadmap to remove RHD as a public health problem in Australia.
Management Of Breathlessness. Cognitive Behavioural Therapy For People With Chronic Obstructive Pulmonary Disease (BREVE RCT)
Funder
National Health and Medical Research Council
Funding Amount
$402,875.00
Summary
For people with chronic lung disease, breathlessness is common, distressing and difficult to relieve. Pulmonary rehabilitation programs have been demonstrated to improve exercise capacity and quality of life. This study will determine whether changing the way people think about the sensation of breathlessness while completing pulmonary rehabilitation, further reduces distress/anxiety and health service use and improve exercise capacity, disability related to breathlessness and quality of life.
Delivering Effective Dental Healthcare In 2020-2030: A National Longitudinal Partnership Study Of Burden Of Oral Diseases In Australia
Funder
National Health and Medical Research Council
Funding Amount
$1,056,522.00
Summary
The proposed partnership project will focus on five main areas: 1. The evaluation of changes in oral diseases. 2. The assessment of the incidence of oral diseases and its relationships with service systems and individual healthcare behaviours. 3. The estimation of the burden of oral diseases in the period 2020–30. 4. The assessment of cost-effectiveness of the various patterns of dental service use. 5. The knowledge translation involving policymakers and dental service providers.
New insulins for the improved management of diabetes. The prevalence of diabetes has increased dramatically over the past few decades and now this condition is widely considered the world’s fastest growing disease. New insulins with improved pharmacological and storage properties are desperately needed, and this project will work on chemical synthesis enabling designer insulins to be prepared for improved management of diabetes.
Health, Economic, Psychological And Social Impact Of Educating Carers Of Patients With Advanced Pulmonary Disease (APD)
Funder
National Health and Medical Research Council
Funding Amount
$605,452.00
Summary
Our study aims to understand the health, economic and social costs associated with caring for patients with advanced pulmonary disease (APD) and to determine health, economic and social impact of improving the skills of caregivers of patients with APD has on patients and their carers. Patients with APD are a large population at high risk of health resource use, unnecessary medication use and emergency admission to hospital or residential care facilities. Although previous research has identified ....Our study aims to understand the health, economic and social costs associated with caring for patients with advanced pulmonary disease (APD) and to determine health, economic and social impact of improving the skills of caregivers of patients with APD has on patients and their carers. Patients with APD are a large population at high risk of health resource use, unnecessary medication use and emergency admission to hospital or residential care facilities. Although previous research has identified difficulties experienced by caregivers of the elderly in general, very little research has been undertaken with carers of patients with APD. The study will compare the usual practice of educating patients with APD who commence home oxygen therapy (HOT), and their carers, against a more detailed and individually targeted education program that increases the skills of patients and carers. This study has the potential to reduce hospital-residential care readmission, reduce carer distress, improve patient outcomes, reduce adverse effects of oxygen therapy and medication use, and minimize inappropriate presentation to tertiary care emergency departments.Read moreRead less
Pregnancy And Neonatal Diabetes Outcomes In Remote Australia (PANDORA) Cohort
Funder
National Health and Medical Research Council
Funding Amount
$2,395,410.00
Summary
The PANDORA study is a longitudinal birth cohort study recruited from a clinical register of Northern Territory women with diabetes in pregnancy (DIP). We will also recruit a comparator group of mothers without DIP and babies. Follow-up of mothers and infants to 3 years post-delivery will be from medical records, questionnaires and clinical assessment. Rates of progression to type 2 diabetes will be assessed among mothers, and growth, feeding patterns and diabetes risk markers among infants.
ARC Centre of Excellence in Plants for Space. ARC Centre of Excellence in Plants for Space. This Centre aims to create on-demand, zero-waste, high-efficiency plants and plant products to address grand challenges in sustainability for Space and on Earth. Significant advances in plant, food, and sensory science; process and systems engineering; law and policy; and psychology are expected to deliver transformative solutions for Space habitation – and create enhanced plant-derived food and bioresour ....ARC Centre of Excellence in Plants for Space. ARC Centre of Excellence in Plants for Space. This Centre aims to create on-demand, zero-waste, high-efficiency plants and plant products to address grand challenges in sustainability for Space and on Earth. Significant advances in plant, food, and sensory science; process and systems engineering; law and policy; and psychology are expected to deliver transformative solutions for Space habitation – and create enhanced plant-derived food and bioresources to capitalise upon emergent and rapidly expanding domestic and global markets. Anticipated outcomes include industry uptake of innovative plant forms, foods, technologies, and commodities; and an ambitious education and international co-ordination agenda to position Australia as a global leader in research supporting Space habitation.Read moreRead less